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
Description: Exhibits 5-aminolevulinate synthase activity. Involved in response to hypoxia. Localizes to 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
Also 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; FLJ93603; SIDBA1; XLDPP; XLEPP; XLSA
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX55,009,055 - 55,030,977 (-)EnsemblGRCh38hg38GRCh38
GRCh38X55,009,055 - 55,030,977 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X55,035,488 - 55,057,410 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X55,052,213 - 55,074,136 (-)NCBINCBI36hg18NCBI36
Build 34X54,918,512 - 54,940,432NCBI
CeleraX58,870,631 - 58,892,640 (-)NCBI
Cytogenetic MapXp11.21NCBI
HuRefX52,086,432 - 52,108,437 (-)NCBIHuRef
CHM1_1X55,025,527 - 55,047,534 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-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  (ISO)
cadmium dichloride  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
carbonyl sulfide  (ISO)
carboplatin  (ISO)
carmustine  (ISO)
catechol  (EXP)
chloroprene  (ISO)
cisplatin  (ISO)
clofibrate  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
crocidolite asbestos  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
diclofenac  (EXP)
dimethyl sulfoxide  (ISO)
dioxygen  (ISO)
doxorubicin  (ISO)
ethanol  (ISO)
ferroheme b  (ISO)
gentamycin  (ISO)
heme b  (ISO)
hemin  (EXP)
hexachlorobenzene  (ISO)
indole-3-methanol  (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)
ozone  (ISO)
paracetamol  (ISO)
paraquat  (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)
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

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
1. Ajioka RS, etal., Biochim Biophys Acta. 2006 Jul;1763(7):723-36. Epub 2006 Jun 3.
2. 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. Cazzola M, etal., Blood. 2000 Dec 15;96(13):4363-5.
4. Cotter PD, etal., Blood. 1994 Dec 1;84(11):3915-24.
5. Cotter PD, etal., J Clin Invest. 1995 Oct;96(4):2090-6.
6. Dhar SK, etal., Res Commun Chem Pathol Pharmacol. 1993 Jun;80(3):329-36.
7. Ducamp S, etal., Hum Mol Genet. 2013 Apr 1;22(7):1280-8. doi: 10.1093/hmg/dds531. Epub 2012 Dec 20.
8. GenMAPP
9. GOA_HUMAN data from the GO Consortium
10. KEGG
11. Kucerova J, etal., Acta Haematol. 2011;125(4):193-7. doi: 10.1159/000322870. Epub 2011 Jan 20.
12. Larion S, etal., Eur J Clin Invest. 2013 Jul;43(7):727-39. doi: 10.1111/eci.12102. Epub 2013 May 8.
13. Lee PL, etal., Blood Cells Mol Dis. 2006 Mar-Apr;36(2):292-7. Epub 2006 Jan 30.
14. OMIM Disease Annotation Pipeline
15. Pipeline to import KEGG annotations from KEGG into RGD
16. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
17. RGD automated import pipeline for gene-chemical interactions
18. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
19. Rokushima M, etal., Toxicol Sci. 2006 Nov 2;.
20. To-Figueras J, etal., Blood. 2011 Aug 11;118(6):1443-51. doi: 10.1182/blood-2011-03-342873. Epub 2011 Jun 7.
21. Uehara T, etal., Toxicology. 2011 Apr 11;282(3):139-45. doi: 10.1016/j.tox.2011.01.027. Epub 2011 Feb 4.
22. 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  


Genomics

Comparative Map Data
ALAS2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX55,009,055 - 55,030,977 (-)EnsemblGRCh38hg38GRCh38
GRCh38X55,009,055 - 55,030,977 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X55,035,488 - 55,057,410 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X55,052,213 - 55,074,136 (-)NCBINCBI36hg18NCBI36
Build 34X54,918,512 - 54,940,432NCBI
CeleraX58,870,631 - 58,892,640 (-)NCBI
Cytogenetic MapXp11.21NCBI
HuRefX52,086,432 - 52,108,437 (-)NCBIHuRef
CHM1_1X55,025,527 - 55,047,534 (-)NCBICHM1_1
Alas2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X149,330,413 - 149,353,618 (+)NCBIGRCm39mm39
GRCm39 EnsemblX149,330,371 - 149,353,634 (+)Ensembl
GRCm38X150,547,417 - 150,570,622 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX150,547,375 - 150,570,638 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X146,981,960 - 147,005,165 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X145,888,161 - 145,911,335 (+)NCBImm8
CeleraX133,836,224 - 133,858,249 (-)NCBICelera
Cytogenetic MapXF3NCBI
cM MapX68.46NCBI
Alas2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X19,463,146 - 19,486,526 (+)NCBI
Rnor_6.0 EnsemblX23,167,696 - 23,187,341 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X23,167,576 - 23,187,356 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
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 MapXq13NCBI
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
PanPan1.1X55,451,669 - 55,468,601 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX55,451,794 - 55,473,680 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X47,219,588 - 47,241,592 (-)NCBIMhudiblu_PPA_v0panPan3
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 (-)NCBI
ROS_Cfam_1.0X46,992,131 - 47,018,312 (-)NCBI
UMICH_Zoey_3.1X46,501,907 - 46,528,079 (-)NCBI
UNSW_CanFamBas_1.0X46,968,475 - 46,994,644 (-)NCBI
UU_Cfam_GSD_1.0X46,910,743 - 46,936,916 (-)NCBI
Alas2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X39,478,526 - 39,501,336 (-)NCBI
SpeTri2.0NW_0049367511,818,255 - 1,841,028 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ALAS2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX47,871,521 - 47,896,003 (-)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 - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X51,086,062 - 51,108,564 (-)NCBI
ChlSab1.1 EnsemblX51,086,066 - 51,103,505 (-)Ensembl
Alas2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624910426,273 - 726,778 (-)NCBI

Position Markers
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

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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High 253 10 10 258 10
Medium 24 571 58 9 640 9 27 27 40 26 43 161 1 1 40 20 3
Low 438 818 678 170 278 147 1034 566 1339 129 340 718 25 575 642 1
Below cutoff 1696 1236 838 353 475 234 3001 1404 2184 206 934 544 124 565 1943 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
  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

Reference Sequences
RefSeq Acc Id: ENST00000335854   ⟹   ENSP00000337131
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX55,009,089 - 55,030,977 (-)Ensembl
RefSeq Acc Id: ENST00000396198   ⟹   ENSP00000379501
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX55,009,055 - 55,030,977 (-)Ensembl
RefSeq Acc Id: ENST00000455688   ⟹   ENSP00000407204
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX55,020,334 - 55,030,977 (-)Ensembl
RefSeq Acc Id: ENST00000463868
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX55,017,560 - 55,030,977 (-)Ensembl
RefSeq Acc Id: ENST00000477869   ⟹   ENSP00000496725
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX55,017,650 - 55,030,977 (-)Ensembl
RefSeq Acc Id: ENST00000493869   ⟹   ENSP00000495713
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX55,017,615 - 55,030,976 (-)Ensembl
RefSeq Acc Id: ENST00000498636   ⟹   ENSP00000495662
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX55,009,113 - 55,020,433 (-)Ensembl
RefSeq Acc Id: ENST00000644983   ⟹   ENSP00000495814
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX55,021,266 - 55,030,977 (-)Ensembl
RefSeq Acc Id: ENST00000650242   ⟹   ENSP00000497236
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 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
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
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
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  
  P22557 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
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: P22557 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001033057   ⟸   NM_001037968
- Peptide Label: isoform c precursor
- UniProtKB: P22557 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000496725   ⟸   ENST00000477869
RefSeq Acc Id: ENSP00000337131   ⟸   ENST00000335854
RefSeq Acc Id: ENSP00000497236   ⟸   ENST00000650242
RefSeq Acc Id: ENSP00000495713   ⟸   ENST00000493869
RefSeq Acc Id: ENSP00000407204   ⟸   ENST00000455688
RefSeq Acc Id: ENSP00000495662   ⟸   ENST00000498636
RefSeq Acc Id: ENSP00000495814   ⟸   ENST00000644983
RefSeq Acc Id: ENSP00000379501   ⟸   ENST00000396198
Protein Domains
Aminotran_1_2   Preseq_ALAS

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

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe) single nucleotide variant Anemia, sideroblastic, 1 [RCV000990842]|Protoporphyria, erythropoietic, X-linked [RCV000033870]|not provided [RCV000199418] ChrX:55009187 [GRCh38]
ChrX:55035620 [GRCh37]
ChrX:Xp11.21
pathogenic|uncertain significance
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 Anemia, sideroblastic, 1 [RCV000011214] ChrX:55014757 [GRCh38]
ChrX:55041190 [GRCh37]
ChrX:Xp11.21
pathogenic
NM_000032.5(ALAS2):c.1163C>G (p.Thr388Ser) single nucleotide variant Anemia, sideroblastic, 1 [RCV000011215] ChrX:55015583 [GRCh38]
ChrX:55042016 [GRCh37]
ChrX:Xp11.21
pathogenic
NM_000032.5(ALAS2):c.495C>A (p.Phe165Leu) single nucleotide variant Anemia, sideroblastic, 1 [RCV000011216] ChrX:55021195 [GRCh38]
ChrX:55047628 [GRCh37]
ChrX:Xp11.21
pathogenic
NM_000032.5(ALAS2):c.871G>A (p.Gly291Ser) single nucleotide variant Anemia, sideroblastic, 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] ChrX:55021176 [GRCh38]
ChrX:55047609 [GRCh37]
ChrX:Xp11.21
pathogenic
NM_000032.5(ALAS2):c.569A>T (p.Asp190Val) single nucleotide variant Anemia, hereditary sideroblastic 1, pyridoxine refractory [RCV000011220] ChrX:55021121 [GRCh38]
ChrX:55047554 [GRCh37]
ChrX:Xp11.21
pathogenic
NM_000032.5(ALAS2):c.1231C>T (p.Arg411Cys) single nucleotide variant Anemia, sideroblastic, 1 [RCV000011221] ChrX:55014953 [GRCh38]
ChrX:55041386 [GRCh37]
ChrX:Xp11.21
pathogenic
NM_000032.5(ALAS2):c.1702A>G (p.Ser568Gly) single nucleotide variant Anemia, sideroblastic, 1 [RCV000011222] ChrX:55009242 [GRCh38]
ChrX:55035675 [GRCh37]
ChrX:Xp11.21
pathogenic
NM_000032.5(ALAS2):c.1184G>A (p.Cys395Tyr) single nucleotide variant Anemia, sideroblastic, 1 [RCV000011223] ChrX:55015000 [GRCh38]
ChrX:55041433 [GRCh37]
ChrX:Xp11.21
pathogenic
NM_000032.5(ALAS2):c.475G>T (p.Asp159Tyr) single nucleotide variant Anemia, sideroblastic, 1 [RCV000011224] ChrX:55021215 [GRCh38]
ChrX:55047648 [GRCh37]
ChrX:Xp11.21
pathogenic
NM_000032.5(ALAS2):c.475G>A (p.Asp159Asn) single nucleotide variant Anemia, sideroblastic, 1 [RCV000011225] ChrX:55021215 [GRCh38]
ChrX:55047648 [GRCh37]
ChrX:Xp11.21
pathogenic
NM_000032.4(ALAS2):c.-258C>G single nucleotide variant Anemia, sideroblastic, 1 [RCV000011226]|not specified [RCV000433066] ChrX:55031184 [GRCh38]
ChrX:55057617 [GRCh37]
ChrX:Xp11.21
pathogenic|uncertain significance
NM_000032.5(ALAS2):c.1570C>G (p.His524Asp) single nucleotide variant Anemia, sideroblastic, 1 [RCV000011227] ChrX:55013516 [GRCh38]
ChrX:55039949 [GRCh37]
ChrX:Xp11.21
pathogenic
NM_000032.5(ALAS2):c.1702_1705AGTG[1] (p.Glu569fs) microsatellite Protoporphyria, erythropoietic, X-linked [RCV000011228] ChrX:55009235..55009238 [GRCh38]
ChrX:55035668..55035671 [GRCh37]
ChrX:Xp11.21
pathogenic
NM_000032.5(ALAS2):c.1699_1700del (p.Met567fs) deletion Protoporphyria, erythropoietic, X-linked [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 Anemia, sideroblastic, 1 [RCV000011230] ChrX:55021095 [GRCh38]
ChrX:55047528 [GRCh37]
ChrX:Xp11.21
pathogenic
NM_000032.5(ALAS2):c.1354C>T (p.Arg452Cys) single nucleotide variant Anemia, sideroblastic, 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 Protoporphyria, erythropoietic, X-linked [RCV000054488] ChrX:55009302 [GRCh38]
ChrX:55035735 [GRCh37]
ChrX:Xp11.21
pathogenic
NM_000032.5(ALAS2):c.1651_1676del (p.Ser551fs) deletion Protoporphyria, erythropoietic, X-linked [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 Anemia, sideroblastic, 1 [RCV000354034]|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 Anemia, sideroblastic, 1 [RCV000407330]|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 Anemia, sideroblastic, 1 [RCV000311554]|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 specified [RCV000123600] ChrX:55013667 [GRCh38]
ChrX:55040100 [GRCh37]
ChrX:Xp11.21
benign
NM_000032.5(ALAS2):c.1438-16T>G single nucleotide variant 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 specified [RCV000123602] ChrX:55024824 [GRCh38]
ChrX:55051257 [GRCh37]
ChrX:Xp11.21
benign
NM_000032.5(ALAS2):c.282A>G (p.Glu94=) single nucleotide variant Anemia, sideroblastic, 1 [RCV000329379]|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 not specified [RCV000200185] ChrX:55024832 [GRCh38]
ChrX:55051265 [GRCh37]
ChrX:Xp11.21
likely benign
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 specified [RCV000196609] ChrX:55024798 [GRCh38]
ChrX:55051231 [GRCh37]
ChrX:Xp11.21
pathogenic|likely benign
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 Anemia, sideroblastic, 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_000032.4(ALAS2):c.47G>A (p.Arg16Gln) single nucleotide variant not specified [RCV000197683] ChrX:55025954 [GRCh38]
ChrX:55052387 [GRCh37]
ChrX:Xp11.21
uncertain significance
NM_000032.5(ALAS2):c.577G>A (p.Val193Ile) single nucleotide variant not specified [RCV000198061] ChrX:55021113 [GRCh38]
ChrX:55047546 [GRCh37]
ChrX:Xp11.21
likely benign
NM_000032.5(ALAS2):c.-15-1790G>A single nucleotide variant not specified [RCV000198340] ChrX:55027805 [GRCh38]
ChrX:55054238 [GRCh37]
ChrX:Xp11.21
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 Anemia, sideroblastic, 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
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 Anemia, sideroblastic, 1 [RCV000395973]|not provided [RCV000884851]|not specified [RCV000199937] ChrX:55014748 [GRCh38]
ChrX:55041181 [GRCh37]
ChrX:Xp11.21
benign|likely benign|uncertain significance
NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu) single nucleotide variant Anemia, sideroblastic, 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 Anemia, sideroblastic, 1 [RCV000379555]|not specified [RCV000196461] ChrX:55009226 [GRCh38]
ChrX:55035659 [GRCh37]
ChrX:Xp11.21
likely benign
NM_000032.5(ALAS2):c.1676G>A (p.Arg559His) single nucleotide variant Anemia, sideroblastic, 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 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 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 Anemia, sideroblastic, 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 Anemia, sideroblastic, 1 [RCV000356981] ChrX:55015639 [GRCh38]
ChrX:55042072 [GRCh37]
ChrX:Xp11.21
benign|likely benign
NM_000032.5(ALAS2):c.1626G>A (p.Ala542=) single nucleotide variant Anemia, sideroblastic, 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 Anemia, sideroblastic, 1 [RCV000359551] ChrX:55020491 [GRCh38]
ChrX:55046924 [GRCh37]
ChrX:Xp11.21
uncertain significance
NM_000032.5(ALAS2):c.661G>A (p.Ala221Thr) single nucleotide variant Anemia, sideroblastic, 1 [RCV000323663]|not provided [RCV000842471] ChrX:55020482 [GRCh38]
ChrX:55046915 [GRCh37]
ChrX:Xp11.21
likely benign|uncertain significance
NM_000032.5(ALAS2):c.*56A>C single nucleotide variant Anemia, sideroblastic, 1 [RCV000315638] ChrX:55009124 [GRCh38]
ChrX:55035557 [GRCh37]
ChrX:Xp11.21
benign
NM_000032.5(ALAS2):c.1567C>T (p.His523Tyr) single nucleotide variant Anemia, sideroblastic, 1 [RCV000376222] ChrX:55013519 [GRCh38]
ChrX:55039952 [GRCh37]
ChrX:Xp11.21
benign|likely benign
NM_000032.4(ALAS2):c.-111G>A single nucleotide variant Sideroblastic Anemia and Ataxia [RCV000288714] ChrX:55031037 [GRCh38]
ChrX:55057470 [GRCh37]
ChrX:Xp11.21
uncertain significance
NM_000032.5(ALAS2):c.-34C>T single nucleotide variant Anemia, sideroblastic, 1 [RCV000383961] ChrX:55030960 [GRCh38]
ChrX:55057393 [GRCh37]
ChrX:Xp11.21
likely benign
NM_000032.5(ALAS2):c.1335C>T (p.Ala445=) single nucleotide variant Anemia, sideroblastic, 1 [RCV000296627] ChrX:55014849 [GRCh38]
ChrX:55041282 [GRCh37]
ChrX:Xp11.21
uncertain significance
NM_000032.5(ALAS2):c.1062C>G (p.Thr354=) single nucleotide variant Anemia, sideroblastic, 1 [RCV000299150] ChrX:55015684 [GRCh38]
ChrX:55042117 [GRCh37]
ChrX:Xp11.21
benign|uncertain significance
NM_000032.5(ALAS2):c.416-11T>C single nucleotide variant Anemia, sideroblastic, 1 [RCV000264856] ChrX:55021285 [GRCh38]
ChrX:55047718 [GRCh37]
ChrX:Xp11.21
uncertain significance
NM_000032.5(ALAS2):c.1321G>A (p.Glu441Lys) single nucleotide variant Anemia, sideroblastic, 1 [RCV000351564]|not provided [RCV001354594] ChrX:55014863 [GRCh38]
ChrX:55041296 [GRCh37]
ChrX:Xp11.21
benign|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 Anemia, sideroblastic, 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 specified [RCV000427256] ChrX:55009297 [GRCh38]
ChrX:55035730 [GRCh37]
ChrX:Xp11.21
benign
NM_000032.5(ALAS2):c.417A>G (p.Gly139=) single nucleotide variant not specified [RCV000437654] ChrX:55021273 [GRCh38]
ChrX:55047706 [GRCh37]
ChrX:Xp11.21
likely benign
NM_000032.5(ALAS2):c.390A>G (p.Thr130=) single nucleotide variant 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 specified [RCV000435821] ChrX:55015643 [GRCh38]
ChrX:55042076 [GRCh37]
ChrX:Xp11.21
likely benign
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 not provided [RCV000429007] ChrX:55024744 [GRCh38]
ChrX:55051177 [GRCh37]
ChrX:Xp11.21
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 specified [RCV000420316] ChrX:55017482 [GRCh38]
ChrX:55043915 [GRCh37]
ChrX:Xp11.21
likely benign
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 not specified [RCV000500755] ChrX:55023799 [GRCh38]
ChrX:55050232 [GRCh37]
ChrX:Xp11.21
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
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 not specified [RCV000607900] ChrX:55020315 [GRCh38]
ChrX:55046748 [GRCh37]
ChrX:Xp11.21
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 Anemia, sideroblastic, 1 [RCV001167232]|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 Anemia, sideroblastic, 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 Autistic disorder of childhood onset [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.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 serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
NM_000032.5(ALAS2):c.197C>T (p.Ala66Val) single nucleotide variant not provided [RCV000980279] ChrX:55024825 [GRCh38]
ChrX:55051258 [GRCh37]
ChrX:Xp11.21
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 Anemia, sideroblastic, 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:55047741 [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 Anemia, sideroblastic, 1 [RCV001169625] 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
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.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 Anemia, sideroblastic, 1 [RCV001169626] ChrX:55013586 [GRCh38]
ChrX:55040019 [GRCh37]
ChrX:Xp11.21
uncertain significance
NM_000032.5(ALAS2):c.*124C>T single nucleotide variant Anemia, sideroblastic, 1 [RCV001167174] ChrX:55009056 [GRCh38]
ChrX:55035489 [GRCh37]
ChrX:Xp11.21
benign
NM_000032.5(ALAS2):c.110G>A (p.Arg37His) single nucleotide variant Anemia, sideroblastic, 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 Anemia, sideroblastic, 1 [RCV001167750] ChrX:55009306 [GRCh38]
ChrX:55035739 [GRCh37]
ChrX:Xp11.21
uncertain significance
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
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
NM_000032.5(ALAS2):c.1382T>A (p.Leu461His) single nucleotide variant Anemia, sideroblastic, 1 [RCV001352676] ChrX:55014802 [GRCh38]
ChrX:55041235 [GRCh37]
ChrX:Xp11.21
likely pathogenic

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 Protein ENSP00000337131 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000379501 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000407204 UniProtKB/TrEMBL
  ENSP00000495662 UniProtKB/TrEMBL
  ENSP00000495713 UniProtKB/TrEMBL
  ENSP00000495814 UniProtKB/TrEMBL
  ENSP00000496725 UniProtKB/TrEMBL
  ENSP00000497236 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000335854 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000396198 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000455688 UniProtKB/TrEMBL
  ENST00000477869 UniProtKB/TrEMBL
  ENST00000493869 UniProtKB/TrEMBL
  ENST00000498636 UniProtKB/TrEMBL
  ENST00000644983 UniProtKB/TrEMBL
  ENST00000650242 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.640.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.1150.10 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
  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 300751 OMIM
  300752 OMIM
  301300 OMIM
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
TIGRFAMs 5aminolev_synth UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y6N3_HUMAN UniProtKB/TrEMBL
  A0A2R8Y6R4_HUMAN UniProtKB/TrEMBL
  A0A2R8Y782_HUMAN UniProtKB/TrEMBL
  A0A2R8Y836_HUMAN UniProtKB/TrEMBL
  H0Y6R3_HUMAN UniProtKB/TrEMBL
  HEM0_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6QNT2_HUMAN UniProtKB/TrEMBL
  Q86YM3_HUMAN UniProtKB/TrEMBL
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    aminolevulinate, delta-, synthase 2  Symbol and/or name change 5135510 APPROVED
2011-08-16 ALAS2  aminolevulinate, delta-, synthase 2  ALAS2  aminolevulinate, delta-, synthase 2  Symbol and/or name change 5135510 APPROVED