ALAS2 (5'-aminolevulinate synthase 2) - Rat Genome Database

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Gene: ALAS2 (5'-aminolevulinate synthase 2) Homo sapiens
Analyze
Symbol: ALAS2
Name: 5'-aminolevulinate synthase 2
RGD ID: 736755
HGNC Page HGNC:397
Description: Enables 5-aminolevulinate synthase activity. Involved in response to hypoxia. Located in mitochondrial inner membrane. Implicated in cutaneous porphyria; erythropoietic protoporphyria; hemochromatosis; sideroblastic anemia; and sideroblastic anemia 1. Biomarker of acute intermittent porphyria.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 5-aminolevulinate synthase, erythroid-specific, mitochondrial; 5-aminolevulinic acid synthase 2; ALAS-E; ALASE; aminolevulinate, delta-, synthase 2; aminolevulinic acid synthase 2; ANH1; ASB; delta-ALA synthase 2; delta-ALA synthetase; delta-aminolevulinate synthase 2; erythroid-specific delta-aminolevulinate synthase; FLJ93603; SIDBA1; XLDPP; XLEPP; XLSA
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X55,009,055 - 55,030,977 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX55,009,055 - 55,030,977 (-)EnsemblGRCh38hg38GRCh38
GRCh37X55,035,488 - 55,057,410 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X55,052,213 - 55,074,136 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X54,918,512 - 54,940,432NCBI
CeleraX58,870,631 - 58,892,640 (-)NCBICelera
Cytogenetic MapXp11.21NCBI
HuRefX52,086,432 - 52,108,437 (-)NCBIHuRef
CHM1_1X55,025,527 - 55,047,534 (-)NCBICHM1_1
T2T-CHM13v2.0X54,302,181 - 54,324,103 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dichloroethane  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,6-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
amiodarone  (ISO)
antirheumatic drug  (EXP)
arsenous acid  (EXP)
astemizole  (ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
beta-naphthoflavone  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butyric acid  (EXP)
cadmium dichloride  (ISO)
cantharidin  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
carbonyl sulfide  (ISO)
carboplatin  (ISO)
carmustine  (ISO)
catechol  (EXP)
CGP 52608  (EXP)
chloroprene  (ISO)
cisplatin  (ISO)
clofibrate  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
crocidolite asbestos  (ISO)
Cuprizon  (ISO)
diallyl trisulfide  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
diclofenac  (EXP)
dimethyl sulfoxide  (ISO)
dioxygen  (ISO)
doxorubicin  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
ferroheme b  (ISO)
gentamycin  (ISO)
heme b  (ISO)
hemin  (EXP)
hexachlorobenzene  (ISO)
indole-3-methanol  (ISO)
indometacin  (ISO)
inulin  (ISO)
irinotecan  (EXP)
iron atom  (ISO)
iron(0)  (ISO)
lead diacetate  (ISO)
linalool  (ISO)
linezolid  (ISO)
maneb  (ISO)
metformin  (ISO)
methimazole  (ISO)
methotrexate  (ISO)
N-nitrosodiethylamine  (ISO)
nitrofen  (ISO)
ozone  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
parathion  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorononanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenacetin  (ISO)
phenformin  (ISO)
phenol  (EXP)
phenylhydrazine  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
progesterone  (ISO)
raloxifene  (ISO)
rotenone  (ISO)
S-adenosyl-L-homocysteine  (EXP)
S-adenosyl-L-methioninate  (EXP)
S-adenosyl-L-methionine  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
T-2 toxin  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
tioguanine  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (ISO)
tungsten  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
mitochondrial inner membrane  (IDA,IEA)
mitochondrial matrix  (IEA,TAS)
mitochondrion  (HTP,IBA,IDA,IEA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Biosynthesis of heme in mammals. Ajioka RS, etal., Biochim Biophys Acta. 2006 Jul;1763(7):723-36. Epub 2006 Jun 3.
2. Synthesis, delivery and regulation of eukaryotic heme and Fe-S cluster cofactors. Barupala DP, etal., Arch Biochem Biophys. 2016 Feb 15;592:60-75. doi: 10.1016/j.abb.2016.01.010. Epub 2016 Jan 16.
3. Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females. Cazzola M, etal., Blood. 2000 Dec 15;96(13):4363-5.
4. X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley. Cotter PD, etal., Blood. 1994 Dec 1;84(11):3915-24.
5. Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts. Cotter PD, etal., J Clin Invest. 1995 Oct;96(4):2090-6.
6. Nature of heme metabolizing enzymes in a mutant rat with hyperbilirubinuria. Dhar SK, etal., Res Commun Chem Pathol Pharmacol. 1993 Jun;80(3):329-36.
7. Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP). Ducamp S, etal., Hum Mol Genet. 2013 Apr 1;22(7):1280-8. doi: 10.1093/hmg/dds531. Epub 2012 Dec 20.
8. GenMAPP: Gene Map Annotator and Pathway Profiler GenMAPP
9. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
10. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
11. New mutation in erythroid-specific delta-aminolevulinate synthase as the cause of X-linked sideroblastic anemia responsive to pyridoxine. Kucerova J, etal., Acta Haematol. 2011;125(4):193-7. doi: 10.1159/000322870. Epub 2011 Jan 20.
12. Circadian rhythms in acute intermittent porphyria--a pilot study. Larion S, etal., Eur J Clin Invest. 2013 Jul;43(7):727-39. doi: 10.1111/eci.12102. Epub 2013 May 8.
13. Three kinships with ALAS2 P520L (c. 1559 C --> T) mutation, two in association with severe iron overload, and one with sideroblastic anemia and severe iron overload. Lee PL, etal., Blood Cells Mol Dis. 2006 Mar-Apr;36(2):292-7. Epub 2006 Jan 30.
14. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
15. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
16. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
17. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
18. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
19. A Toxicogenomic Approach Revealed Hepatic Gene Expression Changes Mechanistically Linked to Drug-Induced Hemolytic Anemia. Rokushima M, etal., Toxicol Sci. 2006 Nov 2;.
20. ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria. To-Figueras J, etal., Blood. 2011 Aug 11;118(6):1443-51. doi: 10.1182/blood-2011-03-342873. Epub 2011 Jun 7.
21. A toxicogenomic approach for identifying biomarkers for myelosuppressive anemia in rats. Uehara T, etal., Toxicology. 2011 Apr 11;282(3):139-45. doi: 10.1016/j.tox.2011.01.027. Epub 2011 Feb 4.
22. C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. Whatley SD, etal., Am J Hum Genet. 2008 Sep;83(3):408-14. doi: 10.1016/j.ajhg.2008.08.003. Epub 2008 Sep 4.
Additional References at PubMed
PMID:546546   PMID:1570328   PMID:1577484   PMID:1939222   PMID:2050125   PMID:2263504   PMID:2347585   PMID:8107717   PMID:8889548   PMID:9642238   PMID:9858242   PMID:10029606  
PMID:10577279   PMID:10727444   PMID:12031592   PMID:12393718   PMID:12477932   PMID:12663458   PMID:14643893   PMID:15166166   PMID:15342556   PMID:15772651   PMID:16121195   PMID:16234850  
PMID:18555711   PMID:18569569   PMID:18624398   PMID:19066423   PMID:19187226   PMID:19731322   PMID:20850938   PMID:21207956   PMID:21309041   PMID:21800356   PMID:21873635   PMID:22269113  
PMID:22740690   PMID:23223129   PMID:23348515   PMID:23364466   PMID:23409301   PMID:23935018   PMID:24166784   PMID:24829177   PMID:25179834   PMID:25416956   PMID:25705881   PMID:25910212  
PMID:26300302   PMID:27751851   PMID:28123038   PMID:28667034   PMID:28731922   PMID:28772256   PMID:29958424   PMID:30678654   PMID:31076252   PMID:31848684   PMID:32296183   PMID:32297424  
PMID:32499479   PMID:33067979   PMID:33596641   PMID:33637726   PMID:34411431   PMID:34490613   PMID:34800366   PMID:35575683   PMID:35637209   PMID:39202434  


Genomics

Comparative Map Data
ALAS2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X55,009,055 - 55,030,977 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX55,009,055 - 55,030,977 (-)EnsemblGRCh38hg38GRCh38
GRCh37X55,035,488 - 55,057,410 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X55,052,213 - 55,074,136 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X54,918,512 - 54,940,432NCBI
CeleraX58,870,631 - 58,892,640 (-)NCBICelera
Cytogenetic MapXp11.21NCBI
HuRefX52,086,432 - 52,108,437 (-)NCBIHuRef
CHM1_1X55,025,527 - 55,047,534 (-)NCBICHM1_1
T2T-CHM13v2.0X54,302,181 - 54,324,103 (-)NCBIT2T-CHM13v2.0
Alas2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X149,330,443 - 149,353,614 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX149,330,371 - 149,353,634 (+)EnsemblGRCm39 Ensembl
GRCm38X150,547,417 - 150,570,622 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX150,547,375 - 150,570,638 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X146,981,960 - 147,005,165 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X145,888,161 - 145,911,335 (+)NCBIMGSCv36mm8
CeleraX133,836,224 - 133,858,249 (-)NCBICelera
Cytogenetic MapXF3NCBI
cM MapX68.46NCBI
Alas2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X22,890,650 - 22,914,046 (+)NCBIGRCr8
mRatBN7.2X19,463,146 - 19,486,526 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX19,463,171 - 19,486,519 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX16,897,530 - 16,916,114 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X23,208,808 - 23,227,392 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X19,981,156 - 19,999,751 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X23,167,576 - 23,187,356 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX23,167,696 - 23,187,341 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X23,587,683 - 23,605,753 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.1X39,853,992 - 39,864,053 (+)NCBI
CeleraX19,742,070 - 19,760,615 (+)NCBICelera
Cytogenetic MapXq12NCBI
Alas2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554752,362,118 - 2,377,864 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554752,362,368 - 2,382,680 (-)NCBIChiLan1.0ChiLan1.0
ALAS2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X56,405,015 - 56,427,183 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X56,408,788 - 56,430,790 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X47,219,588 - 47,241,592 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X55,451,669 - 55,468,601 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX55,451,794 - 55,473,680 (-)Ensemblpanpan1.1panPan2
ALAS2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X46,703,477 - 46,731,767 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX46,703,477 - 46,723,529 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX38,039,113 - 38,065,286 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X46,992,131 - 47,018,312 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX46,992,147 - 47,018,260 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X46,501,907 - 46,528,079 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X46,968,475 - 46,994,644 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X46,910,743 - 46,936,916 (-)NCBIUU_Cfam_GSD_1.0
Alas2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X39,478,526 - 39,501,336 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367511,814,446 - 1,841,531 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367511,818,255 - 1,841,028 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ALAS2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX47,871,523 - 47,896,000 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X47,871,519 - 47,896,041 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X53,807,663 - 53,832,189 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ALAS2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X51,086,062 - 51,108,564 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX51,086,066 - 51,103,505 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660865,064,507 - 5,087,016 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Alas2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624910426,032 - 448,325 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624910426,273 - 726,778 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ALAS2
244 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe) single nucleotide variant Developmental and epileptic encephalopathy, 36 [RCV004698465]|X-linked erythropoietic protoporphyria [RCV000033870]|X-linked sideroblastic anemia 1 [RCV000990842]|not provided [RCV000199418] ChrX:55009187 [GRCh38]
ChrX:55035620 [GRCh37]
ChrX:Xp11.21		 pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|likely pathogenic|conflicting data from submitters
NM_000032.5(ALAS2):c.1427T>A (p.Ile476Asn) single nucleotide variant X-linked sideroblastic anemia 1 [RCV000011214] ChrX:55014757 [GRCh38]
ChrX:55041190 [GRCh37]
ChrX:Xp11.21		 pathogenic
NM_000032.5(ALAS2):c.1163C>G (p.Thr388Ser) single nucleotide variant X-linked sideroblastic anemia 1 [RCV000011215] ChrX:55015583 [GRCh38]
ChrX:55042016 [GRCh37]
ChrX:Xp11.21		 pathogenic
NM_000032.5(ALAS2):c.495C>A (p.Phe165Leu) single nucleotide variant X-linked sideroblastic anemia 1 [RCV000011216]|not provided [RCV001857329] ChrX:55021195 [GRCh38]
ChrX:55047628 [GRCh37]
ChrX:Xp11.21		 pathogenic
NM_000032.5(ALAS2):c.871G>A (p.Gly291Ser) single nucleotide variant X-linked sideroblastic anemia 1 [RCV000011217] ChrX:55017618 [GRCh38]
ChrX:55044051 [GRCh37]
ChrX:Xp11.21		 pathogenic
NM_000032.5(ALAS2):c.895A>C (p.Lys299Gln) single nucleotide variant Sideroblastic anemia 1, late-onset [RCV000011218] ChrX:55017594 [GRCh38]
ChrX:55044027 [GRCh37]
ChrX:Xp11.21		 pathogenic
NM_000032.5(ALAS2):c.514G>A (p.Ala172Thr) single nucleotide variant Sideroblastic anemia 1, late-onset [RCV000011219]|X-linked sideroblastic anemia 1 [RCV001729346] ChrX:55021176 [GRCh38]
ChrX:55047609 [GRCh37]
ChrX:Xp11.21		 pathogenic|likely pathogenic
NM_000032.5(ALAS2):c.569A>T (p.Asp190Val) single nucleotide variant X-linked sideroblastic anemia 1 [RCV003322588] ChrX:55021121 [GRCh38]
ChrX:55047554 [GRCh37]
ChrX:Xp11.21		 pathogenic
NM_000032.5(ALAS2):c.1231C>T (p.Arg411Cys) single nucleotide variant X-linked sideroblastic anemia 1 [RCV000011221]|not provided [RCV003555997] ChrX:55014953 [GRCh38]
ChrX:55041386 [GRCh37]
ChrX:Xp11.21		 pathogenic
NM_000032.5(ALAS2):c.1702A>G (p.Ser568Gly) single nucleotide variant X-linked sideroblastic anemia 1 [RCV000011222] ChrX:55009242 [GRCh38]
ChrX:55035675 [GRCh37]
ChrX:Xp11.21		 pathogenic
NM_000032.5(ALAS2):c.1184G>A (p.Cys395Tyr) single nucleotide variant X-linked sideroblastic anemia 1 [RCV000011223] ChrX:55015000 [GRCh38]
ChrX:55041433 [GRCh37]
ChrX:Xp11.21		 pathogenic
NM_000032.5(ALAS2):c.475G>T (p.Asp159Tyr) single nucleotide variant X-linked sideroblastic anemia 1 [RCV000011224] ChrX:55021215 [GRCh38]
ChrX:55047648 [GRCh37]
ChrX:Xp11.21		 pathogenic
NM_000032.5(ALAS2):c.475G>A (p.Asp159Asn) single nucleotide variant X-linked sideroblastic anemia 1 [RCV000011225] ChrX:55021215 [GRCh38]
ChrX:55047648 [GRCh37]
ChrX:Xp11.21		 pathogenic
NC_000023.11:g.55031184G>C single nucleotide variant ALAS2-related disorder [RCV004751209]|X-linked sideroblastic anemia 1 [RCV000011226]|not provided [RCV001520731] ChrX:55031184 [GRCh38]
ChrX:55057617 [GRCh37]
ChrX:Xp11.21		 pathogenic|benign|likely benign|uncertain significance
NM_000032.5(ALAS2):c.1570C>G (p.His524Asp) single nucleotide variant X-linked sideroblastic anemia 1 [RCV000011227] ChrX:55013516 [GRCh38]
ChrX:55039949 [GRCh37]
ChrX:Xp11.21		 pathogenic
NM_000032.5(ALAS2):c.1706_1709del (p.Glu569fs) microsatellite See cases [RCV004584322]|X-linked erythropoietic protoporphyria [RCV000011228]|not provided [RCV001851788] ChrX:55009235..55009238 [GRCh38]
ChrX:55035668..55035671 [GRCh37]
ChrX:Xp11.21		 pathogenic|likely pathogenic
NM_000032.5(ALAS2):c.1699_1700del (p.Met567fs) deletion X-linked erythropoietic protoporphyria [RCV000011229] ChrX:55009244..55009245 [GRCh38]
ChrX:55035677..55035678 [GRCh37]
ChrX:Xp11.21		 pathogenic
NM_000032.5(ALAS2):c.595T>C (p.Tyr199His) single nucleotide variant X-linked sideroblastic anemia 1 [RCV000011230] ChrX:55021095 [GRCh38]
ChrX:55047528 [GRCh37]
ChrX:Xp11.21		 pathogenic
NM_000032.5(ALAS2):c.1354C>T (p.Arg452Cys) single nucleotide variant ALAS2-related disorder [RCV004730841]|X-linked sideroblastic anemia 1 [RCV000011231]|not provided [RCV000254885] ChrX:55014830 [GRCh38]
ChrX:55041263 [GRCh37]
ChrX:Xp11.21		 pathogenic
NM_000032.5(ALAS2):c.1642C>T (p.Gln548Ter) single nucleotide variant X-linked erythropoietic protoporphyria [RCV000054488] ChrX:55009302 [GRCh38]
ChrX:55035735 [GRCh37]
ChrX:Xp11.21		 pathogenic
NM_000032.5(ALAS2):c.1651_1676del (p.Ser551fs) deletion X-linked erythropoietic protoporphyria [RCV000054489] ChrX:55009268..55009293 [GRCh38]
ChrX:55035701..55035726 [GRCh37]
ChrX:Xp11.21		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2 copy number gain See cases [RCV000052393] ChrX:52363196..58455952 [GRCh38]
ChrX:52175778..58482385 [GRCh37]
ChrX:52123054..58499110 [NCBI36]
ChrX:Xp11.22-11.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp11.22-11.21(chrX:51664377-58055036)x3 copy number gain See cases [RCV000052392] ChrX:51664377..58055036 [GRCh38]
ChrX:51407309..58081470 [GRCh37]
ChrX:51424049..58098195 [NCBI36]
ChrX:Xp11.22-11.21		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000032.5(ALAS2):c.824-15C>T single nucleotide variant X-linked sideroblastic anemia 1 [RCV000354034]|not provided [RCV002055400]|not specified [RCV000123596] ChrX:55017680 [GRCh38]
ChrX:55044113 [GRCh37]
ChrX:Xp11.21		 benign|likely benign
NM_000032.5(ALAS2):c.828C>T (p.Cys276=) single nucleotide variant not provided [RCV000895950]|not specified [RCV000123597] ChrX:55017661 [GRCh38]
ChrX:55044094 [GRCh37]
ChrX:Xp11.21		 benign|likely benign
NM_000032.5(ALAS2):c.1092G>A (p.Leu364=) single nucleotide variant X-linked sideroblastic anemia 1 [RCV000407330]|not provided [RCV002055401]|not specified [RCV000123598] ChrX:55015654 [GRCh38]
ChrX:55042087 [GRCh37]
ChrX:Xp11.21		 benign|likely benign
NM_000032.5(ALAS2):c.1167T>G (p.Leu389=) single nucleotide variant X-linked sideroblastic anemia 1 [RCV000311554]|not provided [RCV002055402]|not specified [RCV000123599] ChrX:55015579 [GRCh38]
ChrX:55042012 [GRCh37]
ChrX:Xp11.21		 benign|likely benign
NM_000032.5(ALAS2):c.1438-19G>C single nucleotide variant not provided [RCV002055403]|not specified [RCV000123600] ChrX:55013667 [GRCh38]
ChrX:55040100 [GRCh37]
ChrX:Xp11.21		 benign
NM_000032.5(ALAS2):c.1438-16T>G single nucleotide variant not provided [RCV001515037]|not specified [RCV000123601] ChrX:55013664 [GRCh38]
ChrX:55040097 [GRCh37]
ChrX:Xp11.21		 benign
NM_000032.5(ALAS2):c.198G>A (p.Ala66=) single nucleotide variant not provided [RCV001516929]|not specified [RCV000123602] ChrX:55024824 [GRCh38]
ChrX:55051257 [GRCh37]
ChrX:Xp11.21		 benign
NM_000032.5(ALAS2):c.282A>G (p.Glu94=) single nucleotide variant X-linked sideroblastic anemia 1 [RCV000329379]|not provided [RCV002055404]|not specified [RCV000123603] ChrX:55024740 [GRCh38]
ChrX:55051173 [GRCh37]
ChrX:Xp11.21		 benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp11.22-11.21(chrX:53764152-58014767)x2 copy number gain See cases [RCV000135877] ChrX:53764152..58014767 [GRCh38]
ChrX:53790650..58041201 [GRCh37]
ChrX:53807375..58057926 [NCBI36]
ChrX:Xp11.22-11.21		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3 copy number gain See cases [RCV000135958] ChrX:48344666..58055036 [GRCh38]
ChrX:48204101..58081470 [GRCh37]
ChrX:48089045..58098195 [NCBI36]
ChrX:Xp11.23-11.21		 pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3		 pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1		 pathogenic|likely benign
GRCh38/hg38 Xp11.22-q11.1(chrX:53750365-63089185)x2 copy number gain See cases [RCV000137412] ChrX:53750365..63089185 [GRCh38]
ChrX:53776863..62203737 [GRCh37]
ChrX:53793588..62225380 [NCBI36]
ChrX:Xp11.22-q11.1		 pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3		 pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1		 pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic|conflicting data from submitters
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24		 pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12		 pathogenic
GRCh38/hg38 Xp11.22-11.1(chrX:51654792-58469500)x1 copy number loss See cases [RCV000142036] ChrX:51654792..58469500 [GRCh38]
ChrX:51397726..58495933 [GRCh37]
ChrX:51414466..58512658 [NCBI36]
ChrX:Xp11.22-11.1		 pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24		 pathogenic
GRCh38/hg38 Xp11.22-q11.2(chrX:52809123-65305544)x3 copy number gain See cases [RCV000142756] ChrX:52809123..65305544 [GRCh38]
ChrX:52838147..64525424 [GRCh37]
ChrX:52854872..64442149 [NCBI36]
ChrX:Xp11.22-q11.2		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000032.5(ALAS2):c.190T>C (p.Ser64Pro) single nucleotide variant ALAS2-related disorder [RCV003967515]|Inborn genetic diseases [RCV002515380]|not provided [RCV001468023]|not specified [RCV000200185] ChrX:55024832 [GRCh38]
ChrX:55051265 [GRCh37]
ChrX:Xp11.21		 likely benign|uncertain significance
NM_000032.5(ALAS2):c.1093T>C (p.Tyr365His) single nucleotide variant not provided [RCV000200342] ChrX:55015653 [GRCh38]
ChrX:55042086 [GRCh37]
ChrX:Xp11.21		 likely pathogenic
NM_000032.5(ALAS2):c.224C>T (p.Ser75Leu) single nucleotide variant not provided [RCV003765257]|not specified [RCV000196609] ChrX:55024798 [GRCh38]
ChrX:55051231 [GRCh37]
ChrX:Xp11.21		 pathogenic|likely benign|uncertain significance
NM_000032.5(ALAS2):c.1355G>A (p.Arg452His) single nucleotide variant not provided [RCV000200462] ChrX:55014829 [GRCh38]
ChrX:55041262 [GRCh37]
ChrX:Xp11.21		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000032.5(ALAS2):c.1676G>C (p.Arg559Pro) single nucleotide variant not provided [RCV000196889] ChrX:55009268 [GRCh38]
ChrX:55035701 [GRCh37]
ChrX:Xp11.21		 likely pathogenic
NM_000032.5(ALAS2):c.1136T>C (p.Met379Thr) single nucleotide variant not provided [RCV000197406] ChrX:55015610 [GRCh38]
ChrX:55042043 [GRCh37]
ChrX:Xp11.21		 likely pathogenic
NM_000032.5(ALAS2):c.1560C>A (p.Pro520=) single nucleotide variant X-linked sideroblastic anemia 1 [RCV000291203]|not provided [RCV000955055]|not specified [RCV000197497] ChrX:55013526 [GRCh38]
ChrX:55039959 [GRCh37]
ChrX:Xp11.21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000032.5(ALAS2):c.47G>A (p.Arg16Gln) single nucleotide variant not provided [RCV002644191] ChrX:55025954 [GRCh38]
ChrX:55052387 [GRCh37]
ChrX:Xp11.21		 benign|likely benign|uncertain significance
NM_000032.5(ALAS2):c.577G>A (p.Val193Ile) single nucleotide variant not provided [RCV002515379]|not specified [RCV000198061] ChrX:55021113 [GRCh38]
ChrX:55047546 [GRCh37]
ChrX:Xp11.21		 likely benign|uncertain significance
NM_000032.5(ALAS2):c.-15-1790G>A single nucleotide variant ALAS2-related disorder [RCV003937728]|not provided [RCV001727629]|not specified [RCV000198340] ChrX:55027805 [GRCh38]
ChrX:55054238 [GRCh37]
ChrX:Xp11.21		 benign|likely benign
NM_000032.5(ALAS2):c.606G>A (p.Met202Ile) single nucleotide variant not provided [RCV000198449] ChrX:55021084 [GRCh38]
ChrX:55047517 [GRCh37]
ChrX:Xp11.21		 pathogenic
NM_000032.4(ALAS2):c.1079A>G (p.His360Arg) single nucleotide variant not provided [RCV000198893] ChrX:55015667 [GRCh38]
ChrX:55042100 [GRCh37]
ChrX:Xp11.21		 likely pathogenic
NM_000032.5(ALAS2):c.1318G>C (p.Gly440Arg) single nucleotide variant X-linked sideroblastic anemia 1 [RCV000400419]|not provided [RCV000199304] ChrX:55014866 [GRCh38]
ChrX:55041299 [GRCh37]
ChrX:Xp11.21		 benign|uncertain significance
NM_000032.5(ALAS2):c.-15-1731G>A single nucleotide variant not provided [RCV000195845] ChrX:55027746 [GRCh38]
ChrX:55054179 [GRCh37]
ChrX:Xp11.21		 likely pathogenic|uncertain significance
NM_000032.5(ALAS2):c.1699A>G (p.Met567Val) single nucleotide variant not provided [RCV000195971] ChrX:55009245 [GRCh38]
ChrX:55035678 [GRCh37]
ChrX:Xp11.21		 pathogenic
NM_000032.5(ALAS2):c.1436G>A (p.Arg479Gln) single nucleotide variant ALAS2-related disorder [RCV004751357]|X-linked sideroblastic anemia 1 [RCV000395973]|not provided [RCV000884851]|not specified [RCV000199937] ChrX:55014748 [GRCh38]
ChrX:55041181 [GRCh37]
ChrX:Xp11.21		 likely pathogenic|benign|likely benign|uncertain significance
NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu) single nucleotide variant X-linked sideroblastic anemia 1 [RCV000990843]|not provided [RCV000911423]|not specified [RCV000196345] ChrX:55013527 [GRCh38]
ChrX:55039960 [GRCh37]
ChrX:Xp11.21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000032.5(ALAS2):c.1718C>T (p.Ser573Phe) single nucleotide variant ALAS2-related disorder [RCV003947630]|X-linked sideroblastic anemia 1 [RCV000379555]|not provided [RCV001485649] ChrX:55009226 [GRCh38]
ChrX:55035659 [GRCh37]
ChrX:Xp11.21		 benign|likely benign
NM_000032.5(ALAS2):c.1676G>A (p.Arg559His) single nucleotide variant ALAS2-related disorder [RCV003927836]|X-linked sideroblastic anemia 1 [RCV000285314]|not provided [RCV000958807]|not specified [RCV000200067] ChrX:55009268 [GRCh38]
ChrX:55035701 [GRCh37]
ChrX:Xp11.21		 benign|likely benign
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.22-q12(chrX:53085607-67176333)x2 copy number gain See cases [RCV000239889] ChrX:53085607..67176333 [GRCh37]
ChrX:Xp11.22-q12		 pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000032.5(ALAS2):c.1563C>T (p.Ser521=) single nucleotide variant not provided [RCV002057277]|not specified [RCV000249043] ChrX:55013523 [GRCh38]
ChrX:55039956 [GRCh37]
ChrX:Xp11.21		 likely benign
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3		 pathogenic
GRCh37/hg19 Xp11.22-11.21(chrX:53220822-58066465)x3 copy number gain See cases [RCV000240407] ChrX:53220822..58066465 [GRCh37]
ChrX:Xp11.22-11.21		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000032.5(ALAS2):c.1057C>G (p.Leu353Val) single nucleotide variant X-linked erythropoietic protoporphyria [RCV003448316]|not provided [RCV000522124] ChrX:55015689 [GRCh38]
ChrX:55042122 [GRCh37]
ChrX:Xp11.21		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000032.5(ALAS2):c.741C>T (p.His247=) single nucleotide variant X-linked sideroblastic anemia 1 [RCV000268610]|not specified [RCV000599912] ChrX:55020402 [GRCh38]
ChrX:55046835 [GRCh37]
ChrX:Xp11.21		 likely benign|uncertain significance
NM_000032.5(ALAS2):c.1107C>T (p.Gly369=) single nucleotide variant ALAS2-related disorder [RCV003932526]|X-linked sideroblastic anemia 1 [RCV000356981]|not provided [RCV002058830] ChrX:55015639 [GRCh38]
ChrX:55042072 [GRCh37]
ChrX:Xp11.21		 benign|likely benign
NM_000032.5(ALAS2):c.1626G>A (p.Ala542=) single nucleotide variant ALAS2-related disorder [RCV003902453]|X-linked sideroblastic anemia 1 [RCV000321671]|not provided [RCV000964099] ChrX:55009318 [GRCh38]
ChrX:55035751 [GRCh37]
ChrX:Xp11.21		 benign
NM_000032.5(ALAS2):c.652C>T (p.Arg218Cys) single nucleotide variant X-linked sideroblastic anemia 1 [RCV000359551]|not provided [RCV003565417] ChrX:55020491 [GRCh38]
ChrX:55046924 [GRCh37]
ChrX:Xp11.21		 likely benign|uncertain significance
NM_000032.5(ALAS2):c.661G>A (p.Ala221Thr) single nucleotide variant X-linked sideroblastic anemia 1 [RCV000323663]|not provided [RCV000842471]|not specified [RCV001821131] ChrX:55020482 [GRCh38]
ChrX:55046915 [GRCh37]
ChrX:Xp11.21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000032.5(ALAS2):c.*56A>C single nucleotide variant X-linked sideroblastic anemia 1 [RCV000315638]|not provided [RCV001618677] ChrX:55009124 [GRCh38]
ChrX:55035557 [GRCh37]
ChrX:Xp11.21		 benign
NM_000032.5(ALAS2):c.1567C>T (p.His523Tyr) single nucleotide variant X-linked sideroblastic anemia 1 [RCV000376222]|not provided [RCV001572292]|not specified [RCV001821130] ChrX:55013519 [GRCh38]
ChrX:55039952 [GRCh37]
ChrX:Xp11.21		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000032.4(ALAS2):c.-111G>A single nucleotide variant Sideroblastic Anemia and Ataxia [RCV000288714]|not provided [RCV004696180] ChrX:55031037 [GRCh38]
ChrX:55057470 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.-34C>T single nucleotide variant X-linked sideroblastic anemia 1 [RCV000383961]|not provided [RCV001575679]|not specified [RCV002248635] ChrX:55030960 [GRCh38]
ChrX:55057393 [GRCh37]
ChrX:Xp11.21		 likely benign|uncertain significance
NM_000032.5(ALAS2):c.1335C>T (p.Ala445=) single nucleotide variant X-linked sideroblastic anemia 1 [RCV000296627]|not provided [RCV004725197] ChrX:55014849 [GRCh38]
ChrX:55041282 [GRCh37]
ChrX:Xp11.21		 likely benign|uncertain significance
NM_000032.5(ALAS2):c.1062C>G (p.Thr354=) single nucleotide variant X-linked sideroblastic anemia 1 [RCV000299150]|not provided [RCV002523834] ChrX:55015684 [GRCh38]
ChrX:55042117 [GRCh37]
ChrX:Xp11.21		 benign|uncertain significance
NM_000032.5(ALAS2):c.416-11T>C single nucleotide variant X-linked sideroblastic anemia 1 [RCV000264856]|not provided [RCV002058831] ChrX:55021285 [GRCh38]
ChrX:55047718 [GRCh37]
ChrX:Xp11.21		 likely benign|uncertain significance
NM_000032.5(ALAS2):c.1321G>A (p.Glu441Lys) single nucleotide variant X-linked sideroblastic anemia 1 [RCV000351564]|not provided [RCV001354594] ChrX:55014863 [GRCh38]
ChrX:55041296 [GRCh37]
ChrX:Xp11.21		 benign|likely benign
NM_000032.5(ALAS2):c.182-77T>A single nucleotide variant not provided [RCV001566552] ChrX:55024917 [GRCh38]
ChrX:55051350 [GRCh37]
ChrX:Xp11.21		 likely benign
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25		 uncertain significance
NM_000032.5(ALAS2):c.1458C>T (p.Asn486=) single nucleotide variant X-linked sideroblastic anemia 1 [RCV001169627] ChrX:55013628 [GRCh38]
ChrX:55040061 [GRCh37]
ChrX:Xp11.21		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000032.5(ALAS2):c.1647T>C (p.Asp549=) single nucleotide variant not provided [RCV002522433]|not specified [RCV000427256] ChrX:55009297 [GRCh38]
ChrX:55035730 [GRCh37]
ChrX:Xp11.21		 benign|likely benign
NM_000032.5(ALAS2):c.417A>G (p.Gly139=) single nucleotide variant not provided [RCV001704301] ChrX:55021273 [GRCh38]
ChrX:55047706 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.390A>G (p.Thr130=) single nucleotide variant not provided [RCV002062615]|not specified [RCV000437705] ChrX:55023782 [GRCh38]
ChrX:55050215 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.1061C>T (p.Thr354Ile) single nucleotide variant not provided [RCV000421007] ChrX:55015685 [GRCh38]
ChrX:55042118 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.1103G>A (p.Arg368Gln) single nucleotide variant not provided [RCV001703798]|not specified [RCV001821178] ChrX:55015643 [GRCh38]
ChrX:55042076 [GRCh37]
ChrX:Xp11.21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000032.5(ALAS2):c.381G>A (p.Gly127=) single nucleotide variant not specified [RCV000439268] ChrX:55023791 [GRCh38]
ChrX:55050224 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.278A>G (p.Gln93Arg) single nucleotide variant Inborn genetic diseases [RCV004022506]|not provided [RCV000429007] ChrX:55024744 [GRCh38]
ChrX:55051177 [GRCh37]
ChrX:Xp11.21		 likely benign|uncertain significance
NM_000032.5(ALAS2):c.1395C>T (p.Gly465=) single nucleotide variant not specified [RCV000425595] ChrX:55014789 [GRCh38]
ChrX:55041222 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.1693G>C (p.Glu565Gln) single nucleotide variant not provided [RCV000436219] ChrX:55009251 [GRCh38]
ChrX:55035684 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.1160G>C (p.Gly387Ala) single nucleotide variant not provided [RCV000428069] ChrX:55015586 [GRCh38]
ChrX:55042019 [GRCh37]
ChrX:Xp11.21		 likely pathogenic
NM_000032.5(ALAS2):c.1003+4T>C single nucleotide variant not provided [RCV003766346]|not specified [RCV000420316] ChrX:55017482 [GRCh38]
ChrX:55043915 [GRCh37]
ChrX:Xp11.21		 likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23		 pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1		 pathogenic
NM_000032.5(ALAS2):c.373A>G (p.Ile125Val) single nucleotide variant X-linked sideroblastic anemia 1 [RCV003485595]|not provided [RCV002524146]|not specified [RCV000500755] ChrX:55023799 [GRCh38]
ChrX:55050232 [GRCh37]
ChrX:Xp11.21		 benign|uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28		 pathogenic|uncertain significance
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_000032.5(ALAS2):c.823+5G>A single nucleotide variant ALAS2-related disorder [RCV003917913]|not provided [RCV002529554]|not specified [RCV000607900] ChrX:55020315 [GRCh38]
ChrX:55046748 [GRCh37]
ChrX:Xp11.21		 benign|likely benign
NM_000032.5(ALAS2):c.639-24_639-20dup duplication not specified [RCV000614523] ChrX:55020523..55020524 [GRCh38]
ChrX:55046956..55046957 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.231C>A (p.Leu77=) single nucleotide variant X-linked sideroblastic anemia 1 [RCV001167232]|not provided [RCV003565436]|not specified [RCV000604953] ChrX:55024791 [GRCh38]
ChrX:55051224 [GRCh37]
ChrX:Xp11.21		 benign|likely benign
NM_000032.5(ALAS2):c.508C>A (p.Arg170Ser) single nucleotide variant X-linked sideroblastic anemia 1 [RCV000626482] ChrX:55021182 [GRCh38]
ChrX:55047615 [GRCh37]
ChrX:Xp11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000032.5(ALAS2):c.508C>T (p.Arg170Cys) single nucleotide variant not provided [RCV001581864] ChrX:55021182 [GRCh38]
ChrX:55047615 [GRCh37]
ChrX:Xp11.21		 pathogenic|likely pathogenic
NM_000032.5(ALAS2):c.1004-221_1004-216del deletion not provided [RCV001692823] ChrX:55015958..55015963 [GRCh38]
ChrX:55042391..55042396 [GRCh37]
ChrX:Xp11.21		 benign
NM_000032.5(ALAS2):c.638+60dup duplication not provided [RCV001534897] ChrX:55020980..55020981 [GRCh38]
ChrX:55047413..55047414 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.182-286C>T single nucleotide variant not provided [RCV001645349] ChrX:55025126 [GRCh38]
ChrX:55051559 [GRCh37]
ChrX:Xp11.21		 benign
NM_000032.5(ALAS2):c.181+52A>G single nucleotide variant not provided [RCV001569519] ChrX:55025768 [GRCh38]
ChrX:55052201 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.1004-221C>G single nucleotide variant not provided [RCV001546737] ChrX:55015963 [GRCh38]
ChrX:55042396 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.305-8C>G single nucleotide variant not provided [RCV000983065] ChrX:55023875 [GRCh38]
ChrX:55050308 [GRCh37]
ChrX:Xp11.21		 benign
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
46,Y,inv(X)(p21.1q13.3) inversion Elevated circulating creatine kinase concentration [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3		 likely pathogenic
NM_000032.5(ALAS2):c.197C>T (p.Ala66Val) single nucleotide variant Inborn genetic diseases [RCV004030029]|not provided [RCV000980279] ChrX:55024825 [GRCh38]
ChrX:55051258 [GRCh37]
ChrX:Xp11.21		 benign|likely benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
NM_000032.5(ALAS2):c.1600+315A>G single nucleotide variant not provided [RCV000832346] ChrX:55013171 [GRCh38]
ChrX:55039604 [GRCh37]
ChrX:Xp11.21		 benign
NM_000032.5(ALAS2):c.1004-174G>A single nucleotide variant not provided [RCV000833419] ChrX:55015916 [GRCh38]
ChrX:55042349 [GRCh37]
ChrX:Xp11.21		 likely benign
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28		 uncertain significance
NM_000032.5(ALAS2):c.888A>G (p.Gly296=) single nucleotide variant not provided [RCV000841903] ChrX:55017601 [GRCh38]
ChrX:55044034 [GRCh37]
ChrX:Xp11.21		 likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000032.5(ALAS2):c.415+197A>G single nucleotide variant not provided [RCV000833418] ChrX:55023560 [GRCh38]
ChrX:55049993 [GRCh37]
ChrX:Xp11.21		 benign
NM_000032.5(ALAS2):c.-16+6A>G single nucleotide variant X-linked sideroblastic anemia 1 [RCV001167234] ChrX:55030936 [GRCh38]
ChrX:55057369 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.416-34C>T single nucleotide variant not provided [RCV000833966] ChrX:55021308 [GRCh38]
ChrX:55021308..55021309 [GRCh38]
ChrX:55047741 [GRCh37]
ChrX:55047741..55047742 [GRCh37]
ChrX:Xp11.21		 benign
NM_000032.5(ALAS2):c.844G>T (p.Ala282Ser) single nucleotide variant not provided [RCV000841303] ChrX:55017645 [GRCh38]
ChrX:55044078 [GRCh37]
ChrX:Xp11.21		 likely benign
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1		 pathogenic
NM_000032.5(ALAS2):c.-16+15C>T single nucleotide variant not provided [RCV000842671] ChrX:55030927 [GRCh38]
ChrX:55057360 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.1532G>A (p.Arg511Gln) single nucleotide variant ALAS2-related disorder [RCV003396781]|X-linked sideroblastic anemia 1 [RCV001169625]|not provided [RCV003769827] ChrX:55013554 [GRCh38]
ChrX:55039987 [GRCh37]
ChrX:Xp11.21		 uncertain significance
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32		 pathogenic
NM_000032.5(ALAS2):c.416-75A>C single nucleotide variant not provided [RCV001571323] ChrX:55021349 [GRCh38]
ChrX:55047782 [GRCh37]
ChrX:Xp11.21		 likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000032.5(ALAS2):c.305-229T>G single nucleotide variant not provided [RCV001544989] ChrX:55024096 [GRCh38]
ChrX:55050529 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.-15-1916A>C single nucleotide variant not provided [RCV001552429] ChrX:55027931 [GRCh38]
ChrX:55054364 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.1004-267CA[26] microsatellite not provided [RCV001671126] ChrX:55015959..55015960 [GRCh38]
ChrX:55042392..55042393 [GRCh37]
ChrX:Xp11.21		 benign
NM_000032.5(ALAS2):c.1571A>G (p.His524Arg) single nucleotide variant X-linked sideroblastic anemia 1 [RCV001534614] ChrX:55013515 [GRCh38]
ChrX:55039948 [GRCh37]
ChrX:Xp11.21		 likely pathogenic
NC_000023.11:g.55031328del deletion not provided [RCV001582094] ChrX:55031326 [GRCh38]
ChrX:55057759 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.1725C>T (p.Phe575=) single nucleotide variant not provided [RCV000930469] ChrX:55009219 [GRCh38]
ChrX:55035652 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.1500T>C (p.Tyr500=) single nucleotide variant X-linked sideroblastic anemia 1 [RCV001169626]|not provided [RCV003769828] ChrX:55013586 [GRCh38]
ChrX:55040019 [GRCh37]
ChrX:Xp11.21		 likely benign|uncertain significance
NM_000032.5(ALAS2):c.*124C>T single nucleotide variant X-linked sideroblastic anemia 1 [RCV001167174]|not provided [RCV001571798] ChrX:55009056 [GRCh38]
ChrX:55035489 [GRCh37]
ChrX:Xp11.21		 benign|likely benign
NM_000032.5(ALAS2):c.639-250del deletion not provided [RCV001556794] ChrX:55020754 [GRCh38]
ChrX:55047187 [GRCh37]
ChrX:Xp11.21		 likely benign
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000032.5(ALAS2):c.653G>A (p.Arg218His) single nucleotide variant X-linked sideroblastic anemia 1 [RCV002246436]|not provided [RCV001574411]|not specified [RCV001821909] ChrX:55020490 [GRCh38]
ChrX:55046923 [GRCh37]
ChrX:Xp11.21		 pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000032.5(ALAS2):c.1169-157C>T single nucleotide variant not provided [RCV001685102] ChrX:55015172 [GRCh38]
ChrX:55041605 [GRCh37]
ChrX:Xp11.21		 benign
NM_000032.5(ALAS2):c.1004-267CA[22] microsatellite not provided [RCV001694406] ChrX:55015960..55015965 [GRCh38]
ChrX:55042393..55042398 [GRCh37]
ChrX:Xp11.21		 benign
NM_000032.5(ALAS2):c.638+93T>C single nucleotide variant not provided [RCV001717442] ChrX:55020959 [GRCh38]
ChrX:55047392 [GRCh37]
ChrX:Xp11.21		 benign
NM_000032.5(ALAS2):c.220C>T (p.Leu74=) single nucleotide variant not provided [RCV001698690]|not specified [RCV001821954] ChrX:55024802 [GRCh38]
ChrX:55051235 [GRCh37]
ChrX:Xp11.21		 benign|likely benign
NM_000032.5(ALAS2):c.1437+263del deletion not provided [RCV001693746] ChrX:55014484 [GRCh38]
ChrX:55040917 [GRCh37]
ChrX:Xp11.21		 benign
NM_000032.5(ALAS2):c.1004-267CA[24] microsatellite not provided [RCV001719583] ChrX:55015960..55015961 [GRCh38]
ChrX:55042393..55042394 [GRCh37]
ChrX:Xp11.21		 benign
NM_000032.5(ALAS2):c.1004-267CA[21] microsatellite not provided [RCV001669865] ChrX:55015960..55015967 [GRCh38]
ChrX:55042393..55042400 [GRCh37]
ChrX:Xp11.21		 benign
NM_000032.5(ALAS2):c.-16+87A>G single nucleotide variant not provided [RCV001590185] ChrX:55030855 [GRCh38]
ChrX:55057288 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.1004-223_1004-216del deletion not provided [RCV001587945] ChrX:55015958..55015965 [GRCh38]
ChrX:55042391..55042398 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.-15-282G>T single nucleotide variant not provided [RCV001724421] ChrX:55026297 [GRCh38]
ChrX:55052730 [GRCh37]
ChrX:Xp11.21		 benign
NM_000032.5(ALAS2):c.1004-241C>G single nucleotide variant not provided [RCV001585523] ChrX:55015983 [GRCh38]
ChrX:55042416 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.305-204A>G single nucleotide variant not provided [RCV001667512] ChrX:55024071 [GRCh38]
ChrX:55050504 [GRCh37]
ChrX:Xp11.21		 benign
NM_000032.5(ALAS2):c.1004-267CA[19] microsatellite not provided [RCV001713542] ChrX:55015960..55015971 [GRCh38]
ChrX:55042393..55042404 [GRCh37]
ChrX:Xp11.21		 benign
NM_000032.5(ALAS2):c.1600+154G>A single nucleotide variant not provided [RCV001565666] ChrX:55013332 [GRCh38]
ChrX:55039765 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.110G>A (p.Arg37His) single nucleotide variant X-linked sideroblastic anemia 1 [RCV001167233] ChrX:55025891 [GRCh38]
ChrX:55052324 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.1638C>G (p.Pro546=) single nucleotide variant X-linked sideroblastic anemia 1 [RCV001167750] ChrX:55009306 [GRCh38]
ChrX:55035739 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.1004-219_1004-216del deletion not provided [RCV001564725] ChrX:55015958..55015961 [GRCh38]
ChrX:55042391..55042394 [GRCh37]
ChrX:Xp11.21		 likely benign
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_000032.5(ALAS2):c.-15-2212A>G single nucleotide variant not provided [RCV001537009] ChrX:55028227 [GRCh38]
ChrX:55054660 [GRCh37]
ChrX:Xp11.21		 likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000032.5(ALAS2):c.488G>A (p.Arg163His) single nucleotide variant X-linked sideroblastic anemia 1 [RCV001376189]|not provided [RCV003145646] ChrX:55021202 [GRCh38]
ChrX:55047635 [GRCh37]
ChrX:Xp11.21		 pathogenic|likely pathogenic
NM_000032.5(ALAS2):c.1382T>A (p.Leu461His) single nucleotide variant X-linked sideroblastic anemia 1 [RCV001352676] ChrX:55014802 [GRCh38]
ChrX:55041235 [GRCh37]
ChrX:Xp11.21		 likely pathogenic
NM_000032.5(ALAS2):c.1437G>C (p.Arg479=) single nucleotide variant not provided [RCV001588310] ChrX:55014747 [GRCh38]
ChrX:55041180 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.-15-1553C>T single nucleotide variant not provided [RCV001648939] ChrX:55027568 [GRCh38]
ChrX:55054001 [GRCh37]
ChrX:Xp11.21		 benign
NM_000032.5(ALAS2):c.1169-209A>T single nucleotide variant not provided [RCV001593435] ChrX:55015224 [GRCh38]
ChrX:55041657 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.1004-223C>G single nucleotide variant not provided [RCV001671608] ChrX:55015965 [GRCh38]
ChrX:55042398 [GRCh37]
ChrX:Xp11.21		 benign
NM_000032.5(ALAS2):c.1004-267CA[23] microsatellite not provided [RCV001669523] ChrX:55015960..55015963 [GRCh38]
ChrX:55042393..55042396 [GRCh37]
ChrX:Xp11.21		 benign
NM_000032.5(ALAS2):c.824-230G>C single nucleotide variant not provided [RCV001611830] ChrX:55017895 [GRCh38]
ChrX:55044328 [GRCh37]
ChrX:Xp11.21		 benign
NM_000032.5(ALAS2):c.1207A>G (p.Thr403Ala) single nucleotide variant not provided [RCV001755102] ChrX:55014977 [GRCh38]
ChrX:55041410 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.1679G>A (p.Arg560His) single nucleotide variant not provided [RCV001756562] ChrX:55009265 [GRCh38]
ChrX:55035698 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.1007C>A (p.Ala336Asp) single nucleotide variant X-linked sideroblastic anemia 1 [RCV001810300]|not provided [RCV001725818] ChrX:55015739 [GRCh38]
ChrX:55042172 [GRCh37]
ChrX:Xp11.21		 uncertain significance
GRCh37/hg19 Xp11.22-11.21(chrX:52901458-55684871)x2 copy number gain not provided [RCV001834255] ChrX:52901458..55684871 [GRCh37]
ChrX:Xp11.22-11.21		 pathogenic
NM_000032.5(ALAS2):c.713A>T (p.Glu238Val) single nucleotide variant Inborn genetic diseases [RCV002540342]|not provided [RCV001763466]|not specified [RCV001821983] ChrX:55020430 [GRCh38]
ChrX:55046863 [GRCh37]
ChrX:Xp11.21		 conflicting interpretations of pathogenicity|uncertain significance
NM_000032.5(ALAS2):c.-15-2186C>G single nucleotide variant not provided [RCV001756563] ChrX:55028201 [GRCh38]
ChrX:55054634 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.638+1G>A single nucleotide variant not provided [RCV001785906] ChrX:55021051 [GRCh38]
ChrX:55047484 [GRCh37]
ChrX:Xp11.21		 likely pathogenic
NM_000032.5(ALAS2):c.1411T>C (p.Cys471Arg) single nucleotide variant not provided [RCV001765862] ChrX:55014773 [GRCh38]
ChrX:55041206 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.1040C>T (p.Ser347Phe) single nucleotide variant not provided [RCV001797317] ChrX:55015706 [GRCh38]
ChrX:55042139 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.1315A>G (p.Lys439Glu) single nucleotide variant not provided [RCV001758169] ChrX:55014869 [GRCh38]
ChrX:55041302 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.1192G>A (p.Gly398Ser) single nucleotide variant not specified [RCV001817933] ChrX:55014992 [GRCh38]
ChrX:55041425 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.1509C>T (p.Ala503=) single nucleotide variant not specified [RCV001819230] ChrX:55013577 [GRCh38]
ChrX:55040010 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.675C>T (p.Gly225=) single nucleotide variant not provided [RCV003728020]|not specified [RCV001817575] ChrX:55020468 [GRCh38]
ChrX:55046901 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.1357A>C (p.Asn453His) single nucleotide variant not specified [RCV001819470] ChrX:55014827 [GRCh38]
ChrX:55041260 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.634A>C (p.Thr212Pro) single nucleotide variant not specified [RCV001819633] ChrX:55021056 [GRCh38]
ChrX:55047489 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.829G>A (p.Glu277Lys) single nucleotide variant Inborn genetic diseases [RCV002675457]|not provided [RCV002045421] ChrX:55017660 [GRCh38]
ChrX:55044093 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.1742A>G (p.Gln581Arg) single nucleotide variant not provided [RCV002042350] ChrX:55009202 [GRCh38]
ChrX:55035635 [GRCh37]
ChrX:Xp11.21		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000032.5(ALAS2):c.1534G>A (p.Gly512Ser) single nucleotide variant not provided [RCV002041201] ChrX:55013552 [GRCh38]
ChrX:55039985 [GRCh37]
ChrX:Xp11.21		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000032.5(ALAS2):c.644C>T (p.Thr215Ile) single nucleotide variant not provided [RCV001927557] ChrX:55020499 [GRCh38]
ChrX:55046932 [GRCh37]
ChrX:Xp11.21		 uncertain significance
GRCh37/hg19 Xp11.22-11.21(chrX:52881435-55684871) copy number gain not specified [RCV002053131] ChrX:52881435..55684871 [GRCh37]
ChrX:Xp11.22-11.21		 likely pathogenic
NM_000032.5(ALAS2):c.922G>A (p.Asp308Asn) single nucleotide variant Inborn genetic diseases [RCV002564433]|not provided [RCV001960959] ChrX:55017567 [GRCh38]
ChrX:55044000 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.1297G>A (p.Glu433Lys) single nucleotide variant not provided [RCV002027590] ChrX:55014887 [GRCh38]
ChrX:55041320 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.1080T>C (p.His360=) single nucleotide variant not provided [RCV002075072] ChrX:55015666 [GRCh38]
ChrX:55042099 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.1437+8C>G single nucleotide variant not provided [RCV002096132] ChrX:55014739 [GRCh38]
ChrX:55041172 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.1623T>C (p.Thr541=) single nucleotide variant not provided [RCV002158173] ChrX:55009321 [GRCh38]
ChrX:55035754 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.304+19C>T single nucleotide variant not provided [RCV002142932] ChrX:55024699 [GRCh38]
ChrX:55051132 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.708T>C (p.His236=) single nucleotide variant not provided [RCV002200579] ChrX:55020435 [GRCh38]
ChrX:55046868 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.1401T>C (p.Pro467=) single nucleotide variant ALAS2-related disorder [RCV003903488]|not provided [RCV002123154] ChrX:55014783 [GRCh38]
ChrX:55041216 [GRCh37]
ChrX:Xp11.21		 likely benign
NC_000023.10:g.(?_53222149)_(55057617_?)del deletion Congenital muscular hypertrophy-cerebral syndrome [RCV003109486] ChrX:53222149..55057617 [GRCh37]
ChrX:Xp11.22-11.21		 pathogenic
NM_000032.5(ALAS2):c.225G>A (p.Ser75=) single nucleotide variant ALAS2-related disorder [RCV003966270]|not provided [RCV003121773] ChrX:55024797 [GRCh38]
ChrX:55051230 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.352G>A (p.Gly118Ser) single nucleotide variant not provided [RCV003434708]|not specified [RCV003151499] ChrX:55023820 [GRCh38]
ChrX:55050253 [GRCh37]
ChrX:Xp11.21		 likely benign|uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304) copy number loss Turner syndrome [RCV002280671] ChrX:168546..57841304 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_000032.5(ALAS2):c.1244C>T (p.Ala415Val) single nucleotide variant X-linked sideroblastic anemia 1 [RCV002279884]|not provided [RCV003138149] ChrX:55014940 [GRCh38]
ChrX:55041373 [GRCh37]
ChrX:Xp11.21		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele complex Turner syndrome [RCV002280670] ChrX:590376..56315041 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000032.5(ALAS2):c.912C>T (p.His304=) single nucleotide variant not provided [RCV002286956] ChrX:55017577 [GRCh38]
ChrX:55044010 [GRCh37]
ChrX:Xp11.21		 uncertain significance
GRCh37/hg19 Xp11.22-q11.2(chrX:53731940-63932866)x3 copy number gain not provided [RCV002472635] ChrX:53731940..63932866 [GRCh37]
ChrX:Xp11.22-q11.2		 likely pathogenic
NM_000032.5(ALAS2):c.1350C>T (p.His450=) single nucleotide variant not provided [RCV002970674] ChrX:55014834 [GRCh38]
ChrX:55041267 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.645C>A (p.Thr215=) single nucleotide variant not provided [RCV002881067] ChrX:55020498 [GRCh38]
ChrX:55046931 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.886G>A (p.Gly296Arg) single nucleotide variant Inborn genetic diseases [RCV002734583]|not provided [RCV003140227] ChrX:55017603 [GRCh38]
ChrX:55044036 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.305-8C>T single nucleotide variant not provided [RCV002975328] ChrX:55023875 [GRCh38]
ChrX:55050308 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.1124G>A (p.Arg375His) single nucleotide variant Inborn genetic diseases [RCV002849020] ChrX:55015622 [GRCh38]
ChrX:55042055 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.496A>C (p.Lys166Gln) single nucleotide variant not provided [RCV002846621] ChrX:55021194 [GRCh38]
ChrX:55047627 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.1601-7C>T single nucleotide variant not provided [RCV002621809] ChrX:55009350 [GRCh38]
ChrX:55035783 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.1372C>T (p.Arg458Cys) single nucleotide variant Inborn genetic diseases [RCV002868392] ChrX:55014812 [GRCh38]
ChrX:55041245 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.753A>G (p.Ser251=) single nucleotide variant not provided [RCV002876021] ChrX:55020390 [GRCh38]
ChrX:55046823 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.841G>C (p.Asp281His) single nucleotide variant not provided [RCV003042394] ChrX:55017648 [GRCh38]
ChrX:55044081 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.1021G>A (p.Glu341Lys) single nucleotide variant not provided [RCV003082606] ChrX:55015725 [GRCh38]
ChrX:55042158 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.1621A>T (p.Thr541Ser) single nucleotide variant not provided [RCV002805451] ChrX:55009323 [GRCh38]
ChrX:55035756 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.638+18A>G single nucleotide variant not provided [RCV002575581] ChrX:55021034 [GRCh38]
ChrX:55047467 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.1354C>A (p.Arg452Ser) single nucleotide variant not provided [RCV003041449] ChrX:55014830 [GRCh38]
ChrX:55041263 [GRCh37]
ChrX:Xp11.21		 pathogenic
NM_000032.5(ALAS2):c.1438-16T>C single nucleotide variant not provided [RCV002872031] ChrX:55013664 [GRCh38]
ChrX:55040097 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.73G>A (p.Val25Met) single nucleotide variant not provided [RCV002717149] ChrX:55025928 [GRCh38]
ChrX:55052361 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.451G>A (p.Asp151Asn) single nucleotide variant not provided [RCV003010138] ChrX:55021239 [GRCh38]
ChrX:55047672 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.557T>C (p.Val186Ala) single nucleotide variant Inborn genetic diseases [RCV002807843] ChrX:55021133 [GRCh38]
ChrX:55047566 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.239G>A (p.Gly80Glu) single nucleotide variant Inborn genetic diseases [RCV004632010]|not provided [RCV002578169] ChrX:55024783 [GRCh38]
ChrX:55051216 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.1625C>T (p.Ala542Val) single nucleotide variant not provided [RCV002582563] ChrX:55009319 [GRCh38]
ChrX:55035752 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.46C>T (p.Arg16Trp) single nucleotide variant not provided [RCV002722139] ChrX:55025955 [GRCh38]
ChrX:55052388 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.181+19C>A single nucleotide variant not provided [RCV002605476] ChrX:55025801 [GRCh38]
ChrX:55052234 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.69C>T (p.Gly23=) single nucleotide variant not provided [RCV002588627] ChrX:55025932 [GRCh38]
ChrX:55052365 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.901G>C (p.Val301Leu) single nucleotide variant not provided [RCV003050430] ChrX:55017588 [GRCh38]
ChrX:55044021 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.1274C>T (p.Pro425Leu) single nucleotide variant not provided [RCV003072626] ChrX:55014910 [GRCh38]
ChrX:55041343 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.109C>T (p.Arg37Cys) single nucleotide variant not provided [RCV002725793] ChrX:55025892 [GRCh38]
ChrX:55052325 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.1276A>G (p.Met426Val) single nucleotide variant not provided [RCV003141295] ChrX:55014908 [GRCh38]
ChrX:55041341 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.1232G>A (p.Arg411His) single nucleotide variant not provided [RCV003141296] ChrX:55014952 [GRCh38]
ChrX:55041385 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.287T>C (p.Val96Ala) single nucleotide variant not provided [RCV003141297] ChrX:55024735 [GRCh38]
ChrX:55051168 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.716T>C (p.Leu239Pro) single nucleotide variant not provided [RCV003141298] ChrX:55020427 [GRCh38]
ChrX:55046860 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.1066G>A (p.Val356Met) single nucleotide variant not provided [RCV003141299] ChrX:55015680 [GRCh38]
ChrX:55042113 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.680G>A (p.Arg227His) single nucleotide variant not provided [RCV003141300] ChrX:55020463 [GRCh38]
ChrX:55046896 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.98T>C (p.Phe33Ser) single nucleotide variant not provided [RCV003141301] ChrX:55025903 [GRCh38]
ChrX:55052336 [GRCh37]
ChrX:Xp11.21		 conflicting interpretations of pathogenicity|uncertain significance
NM_000032.5(ALAS2):c.314G>A (p.Ser105Asn) single nucleotide variant not provided [RCV003141302] ChrX:55023858 [GRCh38]
ChrX:55050291 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.679C>T (p.Arg227Cys) single nucleotide variant not provided [RCV003141303] ChrX:55020464 [GRCh38]
ChrX:55046897 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.-15-2188A>G single nucleotide variant X-linked sideroblastic anemia 1 [RCV003226058] ChrX:55028203 [GRCh38]
ChrX:55054636 [GRCh37]
ChrX:Xp11.21		 likely pathogenic
NM_000032.5(ALAS2):c.1519C>T (p.Pro507Ser) single nucleotide variant not provided [RCV003319795] ChrX:55013567 [GRCh38]
ChrX:55040000 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.1696C>T (p.Leu566Phe) single nucleotide variant Inborn genetic diseases [RCV003357591] ChrX:55009248 [GRCh38]
ChrX:55035681 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.815T>A (p.Ile272Asn) single nucleotide variant Inborn genetic diseases [RCV003375770] ChrX:55020328 [GRCh38]
ChrX:55046761 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.425T>C (p.Val142Ala) single nucleotide variant not provided [RCV003543759] ChrX:55021265 [GRCh38]
ChrX:55047698 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.1646_1664dup (p.Cys555Ter) duplication not provided [RCV003480455] ChrX:55009279..55009280 [GRCh38]
ChrX:55035712..55035713 [GRCh37]
ChrX:Xp11.21		 likely pathogenic
NM_000032.5(ALAS2):c.181+9del deletion not provided [RCV003712626] ChrX:55025811 [GRCh38]
ChrX:55052244 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.415+16T>A single nucleotide variant not provided [RCV003779276]|not specified [RCV003489595] ChrX:55023741 [GRCh38]
ChrX:55050174 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.1169-4C>A single nucleotide variant not provided [RCV003875727] ChrX:55015019 [GRCh38]
ChrX:55041452 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.1355G>T (p.Arg452Leu) single nucleotide variant not provided [RCV003491883] ChrX:55014829 [GRCh38]
ChrX:55041262 [GRCh37]
ChrX:Xp11.21		 conflicting interpretations of pathogenicity
NM_000032.5(ALAS2):c.-15-1829T>C single nucleotide variant X-linked sideroblastic anemia 1 [RCV003447690] ChrX:55027844 [GRCh38]
ChrX:55054277 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.37G>A (p.Val13Met) single nucleotide variant not provided [RCV003489547] ChrX:55025964 [GRCh38]
ChrX:55052397 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.1695G>C (p.Glu565Asp) single nucleotide variant ALAS2-related disorder [RCV003427920]|not provided [RCV003679204] ChrX:55009249 [GRCh38]
ChrX:55035682 [GRCh37]
ChrX:Xp11.21		 likely benign|uncertain significance
NM_000032.5(ALAS2):c.844G>A (p.Ala282Thr) single nucleotide variant ALAS2-related disorder [RCV003420843]|not provided [RCV003778318] ChrX:55017645 [GRCh38]
ChrX:55044078 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.1211G>A (p.Arg404His) single nucleotide variant not provided [RCV003430534] ChrX:55014973 [GRCh38]
ChrX:55041406 [GRCh37]
ChrX:Xp11.21		 benign|likely benign
NM_000032.5(ALAS2):c.-15-1732C>T single nucleotide variant ALAS2-related disorder [RCV003946622]|not provided [RCV003430535] ChrX:55027747 [GRCh38]
ChrX:55054180 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.332G>A (p.Ser111Asn) single nucleotide variant not provided [RCV003848912] ChrX:55023840 [GRCh38]
ChrX:55050273 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.639-7T>C single nucleotide variant not provided [RCV003694960] ChrX:55020511 [GRCh38]
ChrX:55046944 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.181+11G>A single nucleotide variant not provided [RCV003882185] ChrX:55025809 [GRCh38]
ChrX:55052242 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.824-17T>C single nucleotide variant not provided [RCV003828804] ChrX:55017682 [GRCh38]
ChrX:55044115 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.502G>A (p.Val168Met) single nucleotide variant not provided [RCV003739291] ChrX:55021188 [GRCh38]
ChrX:55047621 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.1744_1746delinsA (p.Tyr582fs) indel not provided [RCV003489546] ChrX:55009198..55009200 [GRCh38]
ChrX:55035631..55035633 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.1465C>G (p.Leu489Val) single nucleotide variant not provided [RCV003826940] ChrX:55013621 [GRCh38]
ChrX:55040054 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.1584del (p.Met528fs) deletion not provided [RCV003494102] ChrX:55013502 [GRCh38]
ChrX:55039935 [GRCh37]
ChrX:Xp11.21		 likely pathogenic
NM_000032.5(ALAS2):c.9T>G (p.Thr3=) single nucleotide variant not provided [RCV003661584] ChrX:55025992 [GRCh38]
ChrX:55052425 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.1413C>T (p.Cys471=) single nucleotide variant not provided [RCV003739067] ChrX:55014771 [GRCh38]
ChrX:55041204 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.706C>A (p.His236Asn) single nucleotide variant not provided [RCV003695003] ChrX:55020437 [GRCh38]
ChrX:55046870 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.538C>T (p.His180Tyr) single nucleotide variant not provided [RCV003659830] ChrX:55021152 [GRCh38]
ChrX:55047585 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.568G>C (p.Asp190His) single nucleotide variant not provided [RCV003489548] ChrX:55021122 [GRCh38]
ChrX:55047555 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.305-16T>A single nucleotide variant not provided [RCV003716525] ChrX:55023883 [GRCh38]
ChrX:55050316 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.1257T>C (p.Phe419=) single nucleotide variant not provided [RCV003726377] ChrX:55014927 [GRCh38]
ChrX:55041360 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.1622C>T (p.Thr541Ile) single nucleotide variant not provided [RCV003702963] ChrX:55009322 [GRCh38]
ChrX:55035755 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.182-8T>C single nucleotide variant not provided [RCV003811075] ChrX:55024848 [GRCh38]
ChrX:55051281 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.292G>A (p.Ala98Thr) single nucleotide variant not provided [RCV003659328] ChrX:55024730 [GRCh38]
ChrX:55051163 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.810C>T (p.Ala270=) single nucleotide variant not provided [RCV003833904] ChrX:55020333 [GRCh38]
ChrX:55046766 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.1499A>G (p.Tyr500Cys) single nucleotide variant not provided [RCV003560253] ChrX:55013587 [GRCh38]
ChrX:55040020 [GRCh37]
ChrX:Xp11.21		 pathogenic
NM_000032.5(ALAS2):c.1373G>A (p.Arg458His) single nucleotide variant not provided [RCV003560254] ChrX:55014811 [GRCh38]
ChrX:55041244 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.182-15C>G single nucleotide variant not provided [RCV003671165] ChrX:55024855 [GRCh38]
ChrX:55051288 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.1546C>T (p.Leu516=) single nucleotide variant not provided [RCV003849993] ChrX:55013540 [GRCh38]
ChrX:55039973 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.1685T>C (p.Val562Ala) single nucleotide variant not provided [RCV003560252] ChrX:55009259 [GRCh38]
ChrX:55035692 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.182-18T>A single nucleotide variant not provided [RCV003822837] ChrX:55024858 [GRCh38]
ChrX:55051291 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.1678C>T (p.Arg560Cys) single nucleotide variant not provided [RCV003712008] ChrX:55009266 [GRCh38]
ChrX:55035699 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.1601-6del deletion not provided [RCV003550491] ChrX:55009349 [GRCh38]
ChrX:55035782 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.1020C>T (p.Leu340=) single nucleotide variant not provided [RCV003553415] ChrX:55015726 [GRCh38]
ChrX:55042159 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.1084G>A (p.Val362Ile) single nucleotide variant not provided [RCV003711723] ChrX:55015662 [GRCh38]
ChrX:55042095 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.1152C>A (p.Ile384=) single nucleotide variant not provided [RCV003682681] ChrX:55015594 [GRCh38]
ChrX:55042027 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.1395C>G (p.Gly465=) single nucleotide variant not provided [RCV003563609] ChrX:55014789 [GRCh38]
ChrX:55041222 [GRCh37]
ChrX:Xp11.21		 likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170) copy number loss not specified [RCV003986200] ChrX:168546..55653170 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114) copy number loss not specified [RCV003986240] ChrX:168546..58364114 [GRCh37]
ChrX:Xp22.33-11.1		 pathogenic
NM_000032.5(ALAS2):c.1000G>C (p.Asp334His) single nucleotide variant not provided [RCV003842787] ChrX:55017489 [GRCh38]
ChrX:55043922 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.982G>C (p.Glu328Gln) single nucleotide variant not provided [RCV003862645] ChrX:55017507 [GRCh38]
ChrX:55043940 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.1074G>A (p.Glu358=) single nucleotide variant not provided [RCV003868367] ChrX:55015672 [GRCh38]
ChrX:55042105 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.1435C>T (p.Arg479Trp) single nucleotide variant Inborn genetic diseases [RCV004369122]|not provided [RCV003553784] ChrX:55014749 [GRCh38]
ChrX:55041182 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.669T>C (p.Ala223=) single nucleotide variant not provided [RCV003554217] ChrX:55020474 [GRCh38]
ChrX:55046907 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.714G>T (p.Glu238Asp) single nucleotide variant not provided [RCV003676474] ChrX:55020429 [GRCh38]
ChrX:55046862 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.1569C>T (p.His523=) single nucleotide variant not provided [RCV003554006] ChrX:55013517 [GRCh38]
ChrX:55039950 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.126T>C (p.Ala42=) single nucleotide variant not provided [RCV003679563] ChrX:55025875 [GRCh38]
ChrX:55052308 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.1441G>A (p.Gly481Ser) single nucleotide variant not provided [RCV003542797] ChrX:55013645 [GRCh38]
ChrX:55040078 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.351C>T (p.Ser117=) single nucleotide variant not provided [RCV003732844] ChrX:55023821 [GRCh38]
ChrX:55050254 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.1169-15C>A single nucleotide variant not provided [RCV003705779] ChrX:55015030 [GRCh38]
ChrX:55041463 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.463G>C (p.Glu155Gln) single nucleotide variant not provided [RCV003887555] ChrX:55021227 [GRCh38]
ChrX:55047660 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.304+2T>A single nucleotide variant X-linked sideroblastic anemia 1 [RCV004017207] ChrX:55024716 [GRCh38]
ChrX:55051149 [GRCh37]
ChrX:Xp11.21		 likely pathogenic
NM_000032.5(ALAS2):c.1168+19C>A single nucleotide variant X-linked erythropoietic protoporphyria [RCV003990415] ChrX:55015559 [GRCh38]
ChrX:55041992 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.146C>T (p.Ser49Phe) single nucleotide variant X-linked sideroblastic anemia 1 [RCV003985208] ChrX:55025855 [GRCh38]
ChrX:55052288 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.1532G>T (p.Arg511Leu) single nucleotide variant X-linked erythropoietic protoporphyria [RCV004546889] ChrX:55013554 [GRCh38]
ChrX:55039987 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.-15-2208C>T single nucleotide variant ALAS2-related disorder [RCV003934530] ChrX:55028223 [GRCh38]
ChrX:55054656 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.920C>T (p.Pro307Leu) single nucleotide variant Inborn genetic diseases [RCV004400367] ChrX:55017569 [GRCh38]
ChrX:55044002 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.272_274dup (p.Glu91_Val92insGlu) duplication X-linked sideroblastic anemia 1 [RCV004577198] ChrX:55024747..55024748 [GRCh38]
ChrX:55051180..55051181 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.367G>A (p.Glu123Lys) single nucleotide variant Inborn genetic diseases [RCV004400353] ChrX:55023805 [GRCh38]
ChrX:55050238 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_000032.5(ALAS2):c.4G>T (p.Val2Leu) single nucleotide variant Inborn genetic diseases [RCV004400355] ChrX:55025997 [GRCh38]
ChrX:55052430 [GRCh37]
ChrX:Xp11.21		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2 copy number gain Klinefelter syndrome [RCV004579655] ChrX:2757837..156030895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
NM_000032.5(ALAS2):c.1408C>T (p.Pro470Ser) single nucleotide variant not provided [RCV004585804] ChrX:55014776 [GRCh38]
ChrX:55041209 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.26A>C (p.Gln9Pro) single nucleotide variant Inborn genetic diseases [RCV004627225] ChrX:55025975 [GRCh38]
ChrX:55052408 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.1273C>T (p.Pro425Ser) single nucleotide variant not provided [RCV004591981] ChrX:55014911 [GRCh38]
ChrX:55041344 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NC_000023.10:g.(?_54610638)_(154689386_?)dup duplication Hereditary factor VIII deficiency disease [RCV004768478] ChrX:54610638..154689386 [GRCh37]
ChrX:Xp11.22-q28		 uncertain significance
NM_000032.5(ALAS2):c.304+2T>C single nucleotide variant X-linked erythropoietic protoporphyria [RCV004720687] ChrX:55024716 [GRCh38]
ChrX:55051149 [GRCh37]
ChrX:Xp11.21		 likely pathogenic
NM_000032.5(ALAS2):c.115C>T (p.Pro39Ser) single nucleotide variant not provided [RCV004769476] ChrX:55025886 [GRCh38]
ChrX:55052319 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_000032.5(ALAS2):c.1623_1625del (p.Ala542del) deletion not provided [RCV004762618]   uncertain significance
NM_000032.5(ALAS2):c.50G>A (p.Gly17Asp) single nucleotide variant ALAS2-related disorder [RCV004752219] ChrX:55025951 [GRCh38]
ChrX:55052384 [GRCh37]
ChrX:Xp11.21		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1827
Count of miRNA genes:752
Interacting mature miRNAs:845
Transcripts:ENST00000330807, ENST00000335854, ENST00000396198, ENST00000455688, ENST00000463868, ENST00000477869, ENST00000493869, ENST00000498636
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407005186GWAS654162_Hmean corpuscular hemoglobin QTL GWAS654162 (human)6e-42mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)X5501775555017756Human
407005187GWAS654163_Hmean corpuscular hemoglobin QTL GWAS654163 (human)4e-20mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)X5502130855021309Human
407079377GWAS728353_Hobsolete_red blood cell distribution width QTL GWAS728353 (human)3e-21obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)X5501775555017756Human
407112720GWAS761696_Herythrocyte count QTL GWAS761696 (human)4e-13erythrocyte countred blood cell count (CMO:0000025)X5501775555017756Human
407328045GWAS977021_Hinsomnia QTL GWAS977021 (human)5e-08insomniaX5500962855009629Human
407032776GWAS681752_Hmean corpuscular volume QTL GWAS681752 (human)4e-37mean corpuscular volumemean corpuscular volume (CMO:0000038)X5501775555017756Human
407015144GWAS664120_Hmean corpuscular hemoglobin concentration QTL GWAS664120 (human)1e-11mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)X5501775555017756Human
407032777GWAS681753_Hmean corpuscular volume QTL GWAS681753 (human)4e-25mean corpuscular volumemean corpuscular volume (CMO:0000038)X5502130855021309Human

Markers in Region
WI-16860  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X55,040,850 - 55,040,997UniSTSGRCh37
Build 36X55,057,575 - 55,057,722RGDNCBI36
CeleraX58,875,993 - 58,876,140RGD
Cytogenetic MapXp11.21UniSTS
HuRefX52,091,794 - 52,091,941UniSTS
GeneMap99-GB4 RH MapX177.85UniSTS
Whitehead-RH MapX100.7UniSTS
A009V31  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X55,040,850 - 55,040,959UniSTSGRCh37
Build 36X55,057,575 - 55,057,684RGDNCBI36
CeleraX58,875,993 - 58,876,102RGD
Cytogenetic MapXp11.21UniSTS
HuRefX52,091,794 - 52,091,903UniSTS
GeneMap99-GB4 RH MapX177.85UniSTS
RH94266  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X55,035,337 - 55,035,486UniSTSGRCh37
Build 36X55,052,062 - 55,052,211RGDNCBI36
CeleraX58,870,480 - 58,870,629RGD
Cytogenetic MapXp11.21UniSTS
HuRefX52,086,281 - 52,086,430UniSTS
GeneMap99-GB4 RH MapX171.47UniSTS
AL023933  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X55,056,053 - 55,056,181UniSTSGRCh37
Build 36X55,072,778 - 55,072,906RGDNCBI36
CeleraX58,891,196 - 58,891,324RGD
Cytogenetic MapXp11.21UniSTS
HuRefX52,106,993 - 52,107,121UniSTS
WI-12678  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X55,035,512 - 55,035,661UniSTSGRCh37
Build 36X55,052,237 - 55,052,386RGDNCBI36
CeleraX58,870,655 - 58,870,804RGD
Cytogenetic MapXp11.21UniSTS
HuRefX52,086,456 - 52,086,605UniSTS
GeneMap99-GB4 RH MapX178.47UniSTS
Whitehead-RH MapX102.9UniSTS
RH16577  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X55,047,552 - 55,047,680UniSTSGRCh37
Build 36X55,064,277 - 55,064,405RGDNCBI36
CeleraX58,882,695 - 58,882,823RGD
Cytogenetic MapXp11.21UniSTS
HuRefX52,098,492 - 52,098,620UniSTS
GeneMap99-GB4 RH MapX177.39UniSTS
GDB:193183  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X55,042,333 - 55,042,497UniSTSGRCh37
Build 36X55,059,058 - 55,059,222RGDNCBI36
CeleraX58,877,476 - 58,877,640RGD
Cytogenetic MapXp11.21UniSTS
HuRefX52,093,277 - 52,093,437UniSTS
SGC33540  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X55,047,443 - 55,047,571UniSTSGRCh37
Build 36X55,064,168 - 55,064,296RGDNCBI36
CeleraX58,882,586 - 58,882,714RGD
Cytogenetic MapXp11.21UniSTS
HuRefX52,098,383 - 52,098,511UniSTS
GeneMap99-GB4 RH MapX171.88UniSTS
Whitehead-RH MapX97.5UniSTS
ALAS2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X55,041,492 - 55,041,683UniSTSGRCh37
Build 36X55,058,217 - 55,058,408RGDNCBI36
CeleraX58,876,635 - 58,876,826RGD
HuRefX52,092,436 - 52,092,627UniSTS
G32884  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X55,040,850 - 55,040,958UniSTSGRCh37
CeleraX58,875,993 - 58,876,101UniSTS
Cytogenetic MapXp11.21UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1180 2158 2605 2137 4679 1584 2074 5 542 1651 400 2121 6525 5936 12 3563 764 1599 1424 150 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001037967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001037968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA778169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF068624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL020991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY190322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM677888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP233279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP284609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ182291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S57280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X56352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X60364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000335854   ⟹   ENSP00000337131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX55,009,089 - 55,030,977 (-)Ensembl
Ensembl Acc Id: ENST00000396198   ⟹   ENSP00000379501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX55,009,055 - 55,030,977 (-)Ensembl
Ensembl Acc Id: ENST00000455688   ⟹   ENSP00000407204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX55,020,334 - 55,030,977 (-)Ensembl
Ensembl Acc Id: ENST00000463868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX55,017,560 - 55,030,977 (-)Ensembl
Ensembl Acc Id: ENST00000477869   ⟹   ENSP00000496725
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX55,017,650 - 55,030,977 (-)Ensembl
Ensembl Acc Id: ENST00000493869   ⟹   ENSP00000495713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX55,017,615 - 55,030,976 (-)Ensembl
Ensembl Acc Id: ENST00000498636   ⟹   ENSP00000495662
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX55,009,113 - 55,020,433 (-)Ensembl
Ensembl Acc Id: ENST00000644983   ⟹   ENSP00000495814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX55,021,266 - 55,030,977 (-)Ensembl
Ensembl Acc Id: ENST00000650242   ⟹   ENSP00000497236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX55,009,055 - 55,030,977 (-)Ensembl
RefSeq Acc Id: NM_000032   ⟹   NP_000023
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,009,055 - 55,030,977 (-)NCBI
GRCh37X55,035,488 - 55,057,497 (-)ENTREZGENE
Build 36X55,052,213 - 55,074,136 (-)NCBI Archive
HuRefX52,086,432 - 52,108,437 (-)ENTREZGENE
CHM1_1X55,025,527 - 55,047,534 (-)NCBI
T2T-CHM13v2.0X54,302,181 - 54,324,103 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001037967   ⟹   NP_001033056
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,009,055 - 55,030,977 (-)NCBI
GRCh37X55,035,488 - 55,057,497 (-)ENTREZGENE
Build 36X55,052,213 - 55,074,136 (-)NCBI Archive
HuRefX52,086,432 - 52,108,437 (-)ENTREZGENE
CHM1_1X55,025,527 - 55,047,534 (-)NCBI
T2T-CHM13v2.0X54,302,181 - 54,324,103 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001037968   ⟹   NP_001033057
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,009,055 - 55,030,977 (-)NCBI
GRCh37X55,035,488 - 55,057,497 (-)ENTREZGENE
Build 36X55,052,213 - 55,074,136 (-)NCBI Archive
HuRefX52,086,432 - 52,108,437 (-)ENTREZGENE
CHM1_1X55,025,527 - 55,047,534 (-)NCBI
T2T-CHM13v2.0X54,302,181 - 54,324,103 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000023 (Get FASTA)   NCBI Sequence Viewer  
  NP_001033056 (Get FASTA)   NCBI Sequence Viewer  
  NP_001033057 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC39838 (Get FASTA)   NCBI Sequence Viewer  
  AAH30230 (Get FASTA)   NCBI Sequence Viewer  
  AAO37821 (Get FASTA)   NCBI Sequence Viewer  
  AAT09371 (Get FASTA)   NCBI Sequence Viewer  
  AAT09372 (Get FASTA)   NCBI Sequence Viewer  
  AAT09373 (Get FASTA)   NCBI Sequence Viewer  
  AAT09374 (Get FASTA)   NCBI Sequence Viewer  
  AAT09375 (Get FASTA)   NCBI Sequence Viewer  
  AAT09376 (Get FASTA)   NCBI Sequence Viewer  
  AAT09377 (Get FASTA)   NCBI Sequence Viewer  
  AAT09378 (Get FASTA)   NCBI Sequence Viewer  
  AAT09379 (Get FASTA)   NCBI Sequence Viewer  
  AAT09380 (Get FASTA)   NCBI Sequence Viewer  
  AAT09381 (Get FASTA)   NCBI Sequence Viewer  
  AAT09382 (Get FASTA)   NCBI Sequence Viewer  
  AAT09383 (Get FASTA)   NCBI Sequence Viewer  
  AAT09384 (Get FASTA)   NCBI Sequence Viewer  
  AAT09385 (Get FASTA)   NCBI Sequence Viewer  
  AAT09386 (Get FASTA)   NCBI Sequence Viewer  
  AAT09387 (Get FASTA)   NCBI Sequence Viewer  
  AAT09388 (Get FASTA)   NCBI Sequence Viewer  
  AAT09389 (Get FASTA)   NCBI Sequence Viewer  
  AAT09390 (Get FASTA)   NCBI Sequence Viewer  
  AAT09391 (Get FASTA)   NCBI Sequence Viewer  
  AAT09392 (Get FASTA)   NCBI Sequence Viewer  
  AAT09393 (Get FASTA)   NCBI Sequence Viewer  
  AAT09394 (Get FASTA)   NCBI Sequence Viewer  
  AAT09395 (Get FASTA)   NCBI Sequence Viewer  
  AAT09396 (Get FASTA)   NCBI Sequence Viewer  
  AAT09397 (Get FASTA)   NCBI Sequence Viewer  
  AAT09398 (Get FASTA)   NCBI Sequence Viewer  
  AAT09399 (Get FASTA)   NCBI Sequence Viewer  
  AAT09400 (Get FASTA)   NCBI Sequence Viewer  
  AAT09401 (Get FASTA)   NCBI Sequence Viewer  
  AAT09402 (Get FASTA)   NCBI Sequence Viewer  
  AAT09403 (Get FASTA)   NCBI Sequence Viewer  
  AAT09404 (Get FASTA)   NCBI Sequence Viewer  
  AAT09405 (Get FASTA)   NCBI Sequence Viewer  
  AAT09406 (Get FASTA)   NCBI Sequence Viewer  
  AAT09407 (Get FASTA)   NCBI Sequence Viewer  
  AAT09408 (Get FASTA)   NCBI Sequence Viewer  
  AAT09409 (Get FASTA)   NCBI Sequence Viewer  
  AAT09410 (Get FASTA)   NCBI Sequence Viewer  
  AAT09411 (Get FASTA)   NCBI Sequence Viewer  
  BAF83254 (Get FASTA)   NCBI Sequence Viewer  
  BAF84278 (Get FASTA)   NCBI Sequence Viewer  
  BAG35939 (Get FASTA)   NCBI Sequence Viewer  
  CAA39795 (Get FASTA)   NCBI Sequence Viewer  
  CAA42916 (Get FASTA)   NCBI Sequence Viewer  
  EAW93211 (Get FASTA)   NCBI Sequence Viewer  
  EAW93212 (Get FASTA)   NCBI Sequence Viewer  
  EAW93213 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000337131
  ENSP00000337131.4
  ENSP00000379501
  ENSP00000379501.3
  ENSP00000407204.2
  ENSP00000495662.1
  ENSP00000495713.1
  ENSP00000495814.1
  ENSP00000496725.1
  ENSP00000497236
  ENSP00000497236.1
GenBank Protein P22557 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001033056   ⟸   NM_001037967
- Peptide Label: isoform b precursor
- UniProtKB: P22557 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_000023   ⟸   NM_000032
- Peptide Label: isoform a precursor
- UniProtKB: Q5JZF5 (UniProtKB/Swiss-Prot),   Q13735 (UniProtKB/Swiss-Prot),   A8K6C4 (UniProtKB/Swiss-Prot),   A8K3F0 (UniProtKB/Swiss-Prot),   Q8N6H3 (UniProtKB/Swiss-Prot),   P22557 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001033057   ⟸   NM_001037968
- Peptide Label: isoform c precursor
- UniProtKB: P22557 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000496725   ⟸   ENST00000477869
Ensembl Acc Id: ENSP00000337131   ⟸   ENST00000335854
Ensembl Acc Id: ENSP00000497236   ⟸   ENST00000650242
Ensembl Acc Id: ENSP00000495713   ⟸   ENST00000493869
Ensembl Acc Id: ENSP00000407204   ⟸   ENST00000455688
Ensembl Acc Id: ENSP00000495662   ⟸   ENST00000498636
Ensembl Acc Id: ENSP00000495814   ⟸   ENST00000644983
Ensembl Acc Id: ENSP00000379501   ⟸   ENST00000396198
Protein Domains
5-aminolevulinate synthase presequence   Aminotransferase class I/classII

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P22557-F1-model_v2 AlphaFold P22557 1-587 view protein structure

Promoters
RGD ID:13605428
Promoter ID:EPDNEW_H28898
Type:multiple initiation site
Name:ALAS2_1
Description:5'-aminolevulinate synthase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,030,977 - 55,031,037EPDNEW
RGD ID:6808476
Promoter ID:HG_KWN:66984
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000056839,   OTTHUMT00000056840,   OTTHUMT00000056841,   OTTHUMT00000056842,   UC004DUA.2,   UC004DUB.2,   UC004DUC.2,   UC004DUD.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36X55,073,841 - 55,074,341 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:397 AgrOrtholog
COSMIC ALAS2 COSMIC
Ensembl Genes ENSG00000158578 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000335854 ENTREZGENE
  ENST00000335854.8 UniProtKB/Swiss-Prot
  ENST00000396198 ENTREZGENE
  ENST00000396198.7 UniProtKB/Swiss-Prot
  ENST00000455688.2 UniProtKB/TrEMBL
  ENST00000477869.6 UniProtKB/TrEMBL
  ENST00000493869.2 UniProtKB/TrEMBL
  ENST00000498636.1 UniProtKB/TrEMBL
  ENST00000644983.1 UniProtKB/TrEMBL
  ENST00000650242 ENTREZGENE
  ENST00000650242.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.640.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.1150.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aminolevulinic Acid Synthase 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000158578 GTEx
HGNC ID HGNC:397 ENTREZGENE
Human Proteome Map ALAS2 Human Proteome Map
InterPro 4pyrrol_synth_NH2levulA_synth UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  5aminolev_synth_preseq UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aminotrans_II_pyridoxalP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aminotransferase_I/II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AON_synthase_class-II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase_dom1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase_major UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:212 UniProtKB/Swiss-Prot
NCBI Gene 212 ENTREZGENE
OMIM 301300 OMIM
PANTHER 5-AMINOLEVULINATE SYNTHASE, ERYTHROID-SPECIFIC, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CLASS II AMINOTRANSFERASE/8-AMINO-7-OXONONANOATE SYNTHASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Aminotran_1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Preseq_ALAS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24689 PharmGKB
PROSITE AA_TRANSFER_CLASS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53383 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y6N3_HUMAN UniProtKB/TrEMBL
  A0A2R8Y6R4_HUMAN UniProtKB/TrEMBL
  A0A2R8Y782_HUMAN UniProtKB/TrEMBL
  A0A2R8Y836_HUMAN UniProtKB/TrEMBL
  A8K3F0 ENTREZGENE
  A8K6C4 ENTREZGENE
  H0Y6R3_HUMAN UniProtKB/TrEMBL
  HEM0_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q13735 ENTREZGENE
  Q5JZF5 ENTREZGENE
  Q6QNT2_HUMAN UniProtKB/TrEMBL
  Q86YM3_HUMAN UniProtKB/TrEMBL
  Q8N6H3 ENTREZGENE
UniProt Secondary A8K3F0 UniProtKB/Swiss-Prot
  A8K6C4 UniProtKB/Swiss-Prot
  Q13735 UniProtKB/Swiss-Prot
  Q5JZF5 UniProtKB/Swiss-Prot
  Q8N6H3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-11-26 ALAS2  5'-aminolevulinate synthase 2  ALAS2  aminolevulinate, delta-, synthase 2  Symbol and/or name change 5135510 APPROVED