C2 (complement C2) - Rat Genome Database

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Gene: C2 (complement C2) Homo sapiens
Analyze
Symbol: C2
Name: complement C2
RGD ID: 1353499
HGNC Page HGNC:1248
Description: Predicted to enable metal ion binding activity and serine-type endopeptidase activity. Involved in complement activation and positive regulation of apoptotic cell clearance. Located in classical-complement-pathway C3/C5 convertase complex. Implicated in Alzheimer's disease; age related macular degeneration 14; complement component 2 deficiency; macular degeneration; and psoriasis. Biomarker of systemic lupus erythematosus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ARMD14; C3/C5 convertase; CC2; CO2; complement component 2; complement component C2; DKFZp779M0311
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
GRCh38631,897,783 - 31,945,672 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl631,897,785 - 31,945,673 (+)EnsemblGRCh38hg38GRCh38
GRCh37631,865,560 - 31,913,449 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36632,003,473 - 32,021,427 (+)NCBINCBI36Build 36hg18NCBI36
Build 34632,003,472 - 32,021,427NCBI
Celera633,495,068 - 33,513,211 (+)NCBICelera
Cytogenetic Map6p21.33NCBI
HuRef631,651,618 - 31,700,418 (+)NCBIHuRef
CHM1_1631,867,703 - 31,915,530 (+)NCBICHM1_1
T2T-CHM13v2.0631,751,025 - 31,798,877 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
antirheumatic drug  (EXP)
aripiprazole  (EXP)
aristolochic acid  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
Benzo[ghi]perylene  (ISO)
bisphenol A  (EXP,ISO)
butanal  (EXP)
C60 fullerene  (ISO)
cadmium dichloride  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
chromium(6+)  (EXP,ISO)
clobetasol  (ISO)
clofibrate  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP,ISO)
decabromodiphenyl ether  (ISO)
dichloroacetic acid  (ISO)
diclofenac  (ISO)
diuron  (ISO)
epoxiconazole  (ISO)
fenthion  (ISO)
flutamide  (ISO)
fulvestrant  (EXP)
gentamycin  (ISO)
glyphosate  (EXP)
Indeno[1,2,3-cd]pyrene  (ISO)
irinotecan  (ISO)
ketamine  (ISO)
lead diacetate  (ISO)
methapyrilene  (EXP)
methidathion  (ISO)
methylphenidate  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
oxaliplatin  (ISO)
ozone  (EXP,ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenytoin  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
progesterone  (EXP)
propanal  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP)
sodium dodecyl sulfate  (EXP)
Soman  (ISO)
tacrolimus hydrate  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
Tributyltin oxide  (ISO)
trimellitic anhydride  (ISO)
triptonide  (ISO)
valproic acid  (EXP)

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

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Susceptibility to advanced age-related macular degeneration and alleles of complement factor H, complement factor B, complement component 2, complement component 3, and age-related maculopathy susceptibility 2 genes in a Mexican population. Buentello-Volante B, etal., Mol Vis. 2012;18:2518-25. Epub 2012 Oct 11.
2. HLA-linked complement polymorphisms (C2, BF) in psoriasis. Dewald G, etal., Arch Dermatol Res. 1983;275(5):301-4.
3. Variations in five genes and the severity of age-related macular degeneration: results from the Muenster aging and retina study. Farwick A, etal., Eye (Lond). 2009 Dec;23(12):2238-44. doi: 10.1038/eye.2008.426. Epub .
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. Gold B, etal., Nat Genet. 2006 Apr;38(4):458-62. Epub 2006 Mar 5.
6. Association of polymorphisms in C2, CFB and C3 with exudative age-related macular degeneration in a Korean population. Kim SJ, etal., Exp Eye Res. 2012 Mar;96(1):42-7. doi: 10.1016/j.exer.2012.01.005. Epub 2012 Jan 18.
7. Significance of C2/CFB variants in age-related macular degeneration and polypoidal choroidal vasculopathy in a Japanese population. Nakata I, etal., Invest Ophthalmol Vis Sci. 2012 Feb 16;53(2):794-8. doi: 10.1167/iovs.11-8468.
8. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
9. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
10. Alzheimer's disease and age-related macular degeneration have different genetic models for complement gene variation. Proitsi P, etal., Neurobiol Aging. 2012 Aug;33(8):1843.e9-17. doi: 10.1016/j.neurobiolaging.2011.12.036. Epub 2012 Feb 1.
11. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
12. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
13. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
14. Analysis of rare variants in the complement component 2 (C2) and factor B (BF) genes refine association for age-related macular degeneration (AMD). Richardson AJ, etal., Invest Ophthalmol Vis Sci. 2009 Feb;50(2):540-3. doi: 10.1167/iovs.08-2423. Epub 2008 Sep 20.
15. Breakdown product of factor B as an index of complement activation in lepromatous leprosy and its relation with bacillary load. Saha K, etal., Scand J Immunol. 1983 Jan;17(1):37-43.
16. Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration. Spencer KL, etal., Hum Mol Genet. 2007 Aug 15;16(16):1986-92. Epub 2007 Jun 18.
17. Enhanced susceptibility to acute pneumococcal otitis media in mice deficient in complement C1qa, factor B, and factor B/C2. Tong HH, etal., Infect Immun. 2010 Mar;78(3):976-83. doi: 10.1128/IAI.01012-09. Epub 2010 Jan 11.
18. Determination of the second component of complement (C2) by electroimmunoassay in sera from patients with systemic lupus erythematosus. Ueda A, etal., Clin Exp Immunol. 1983 Jul;53(1):217-24.
19. Association between polymorphisms of complement pathway genes and age-related macular degeneration in a Chinese population. Wu L, etal., Invest Ophthalmol Vis Sci. 2013 Jan 7;54(1):170-4. doi: 10.1167/iovs.12-10453.
20. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
21. Association of C2 and CFB polymorphisms with anterior uveitis. Yang MM, etal., Invest Ophthalmol Vis Sci. 2012 Jul 27;53(8):4969-74. doi: 10.1167/iovs.12-9478.
22. Rare inborn errors associated with chronic hepatitis B virus infection. Zhao Q, etal., Hepatology. 2012 Nov;56(5):1661-70. doi: 10.1002/hep.25850. Epub 2012 Oct 14.
Additional References at PubMed
PMID:162484   PMID:978135   PMID:1084023   PMID:1350302   PMID:1531292   PMID:1577763   PMID:1701385   PMID:2091785   PMID:2493504   PMID:2582254   PMID:2949737   PMID:2997031  
PMID:3315100   PMID:3546307   PMID:3643061   PMID:6019133   PMID:6149575   PMID:6199794   PMID:6555044   PMID:6922702   PMID:8120386   PMID:8125298   PMID:8175701   PMID:8299689  
PMID:8326124   PMID:8621452   PMID:9453398   PMID:9670930   PMID:10072631   PMID:10734221   PMID:10946278   PMID:10946292   PMID:11222683   PMID:11341920   PMID:12477932   PMID:12823772  
PMID:12878586   PMID:14702039   PMID:15199963   PMID:15489334   PMID:16335952   PMID:16670774   PMID:17482263   PMID:18069935   PMID:18174230   PMID:18493315   PMID:18515590   PMID:18541650  
PMID:18806297   PMID:18936151   PMID:18987644   PMID:19015224   PMID:19117936   PMID:19180512   PMID:19197355   PMID:19237749   PMID:19259132   PMID:19302245   PMID:19336475   PMID:19344414  
PMID:19399715   PMID:19423540   PMID:19430225   PMID:19556007   PMID:19661236   PMID:19696172   PMID:19851445   PMID:19913121   PMID:19948975   PMID:20157618   PMID:20205591   PMID:20378180  
PMID:20381870   PMID:20385819   PMID:20385826   PMID:20406964   PMID:20417301   PMID:20438785   PMID:20523265   PMID:20628086   PMID:20679960   PMID:20801516   PMID:20888482   PMID:21105107  
PMID:21665990   PMID:21764829   PMID:21873635   PMID:21881993   PMID:22566634   PMID:22705344   PMID:22869612   PMID:23060141   PMID:23455636   PMID:23533145   PMID:23535732   PMID:23577725  
PMID:23620142   PMID:24453474   PMID:24519512   PMID:24871463   PMID:24965207   PMID:24983375   PMID:25732348   PMID:25910212   PMID:26176736   PMID:26760575   PMID:27252379   PMID:28514442  
PMID:28742139   PMID:29283494   PMID:30179527   PMID:32164349   PMID:32296183   PMID:32913345   PMID:33961781   PMID:34711951   PMID:34899688  


Genomics

Comparative Map Data
C2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38631,897,783 - 31,945,672 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl631,897,785 - 31,945,673 (+)EnsemblGRCh38hg38GRCh38
GRCh37631,865,560 - 31,913,449 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36632,003,473 - 32,021,427 (+)NCBINCBI36Build 36hg18NCBI36
Build 34632,003,472 - 32,021,427NCBI
Celera633,495,068 - 33,513,211 (+)NCBICelera
Cytogenetic Map6p21.33NCBI
HuRef631,651,618 - 31,700,418 (+)NCBIHuRef
CHM1_1631,867,703 - 31,915,530 (+)NCBICHM1_1
T2T-CHM13v2.0631,751,025 - 31,798,877 (+)NCBIT2T-CHM13v2.0
C2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391735,081,578 - 35,101,076 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1735,081,580 - 35,117,241 (-)EnsemblGRCm39 Ensembl
GRCm381734,862,602 - 34,882,100 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1734,862,604 - 34,898,265 (-)EnsemblGRCm38mm10GRCm38
MGSCv371734,999,547 - 35,019,045 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361734,470,663 - 34,490,103 (-)NCBIMGSCv36mm8
Celera1737,957,910 - 37,977,407 (-)NCBICelera
Cytogenetic Map17B1NCBI
cM Map1718.41NCBI
C2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2203,951,474 - 3,970,376 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl203,951,474 - 3,976,505 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx204,651,385 - 4,670,381 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0204,013,128 - 4,032,129 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0204,550,327 - 4,569,295 (+)NCBIRnor_WKY
Rnor_6.0204,542,340 - 4,561,152 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl204,542,340 - 4,561,152 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0206,622,139 - 6,641,139 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4204,051,146 - 4,071,909 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1204,051,372 - 4,072,135 (+)NCBI
Celera204,060,318 - 4,078,802 (-)NCBICelera
Cytogenetic Map20p12NCBI
C2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955437448,672 - 460,519 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955437449,171 - 460,898 (+)NCBIChiLan1.0ChiLan1.0
C2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1632,476,791 - 32,492,982 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0631,590,135 - 31,606,368 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
C2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1121,363,656 - 1,399,732 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl121,363,803 - 1,399,728 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha121,493,696 - 1,534,930 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0121,500,603 - 1,542,031 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl121,500,627 - 1,542,028 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1121,358,291 - 1,399,309 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0121,426,238 - 1,467,677 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0121,491,715 - 1,533,005 (+)NCBIUU_Cfam_GSD_1.0
C2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494635,913,518 - 35,958,946 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049367271,602,400 - 1,615,974 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
C2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl723,995,982 - 24,033,930 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1724,020,590 - 24,034,042 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2727,778,160 - 27,791,919 (-)NCBISscrofa10.2Sscrofa10.2susScr3
C2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11740,069,852 - 40,094,478 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1740,069,909 - 40,094,207 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604431,844,362 - 31,862,408 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
C2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475424,316,778 - 24,327,065 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in C2
199 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5437
Count of miRNA genes:1106
Interacting mature miRNAs:1433
Transcripts:ENST00000299367, ENST00000383177, ENST00000411571, ENST00000413154, ENST00000418949, ENST00000442278, ENST00000447952, ENST00000452202, ENST00000452323, ENST00000468407, ENST00000469372, ENST00000482060, ENST00000484636, ENST00000485690, ENST00000486124, ENST00000494905, ENST00000497706
Prediction methods:Miranda, 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.

Markers in Region
RH18075  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,912,999 - 31,913,221UniSTSGRCh37
Build 36632,020,978 - 32,021,200RGDNCBI36
Celera633,512,761 - 33,512,983RGD
Cytogenetic Map6p21.3UniSTS
HuRef631,699,968 - 31,700,190UniSTS
GeneMap99-GB4 RH Map6119.16UniSTS
WI-8686  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,913,123 - 31,913,225UniSTSGRCh37
Build 36632,021,102 - 32,021,204RGDNCBI36
Celera633,512,885 - 33,512,987RGD
Cytogenetic Map6p21.3UniSTS
HuRef631,700,092 - 31,700,194UniSTS
GeneMap99-GB4 RH Map6120.03UniSTS
GeneMap99-GB4 RH Map6145.45UniSTS
Whitehead-RH Map6177.7UniSTS
C2_3011  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,912,933 - 31,913,528UniSTSGRCh37
Build 36632,020,912 - 32,021,507RGDNCBI36
Celera633,512,695 - 33,513,290RGD
HuRef631,699,902 - 31,700,497UniSTS
D6S2896  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,903,211 - 31,903,559UniSTSGRCh37
Build 36632,011,190 - 32,011,538RGDNCBI36
Celera633,502,963 - 33,503,311RGD
HuRef631,689,840 - 31,690,188UniSTS
D6S2973  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,906,110 - 31,906,336UniSTSGRCh37
Build 36632,014,089 - 32,014,315RGDNCBI36
Celera633,505,862 - 33,506,088RGD
HuRef631,693,078 - 31,693,304UniSTS
N3_3_3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,903,211 - 31,903,559UniSTSGRCh37
Build 36632,011,190 - 32,011,538RGDNCBI36
Celera633,502,963 - 33,503,311RGD
Cytogenetic Map6p21.3UniSTS
HuRef631,689,840 - 31,690,188UniSTS
D10S275  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map13q12.13UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map6q24UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map3p25UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map20pter-q11.23UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map3q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11p14.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map6q12-q13UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2p14UniSTS


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 pharyngeal arch
High
Medium 771 423 623 499 520 434 848 209 147 107 293 670 67 1054 242 1
Low 1618 2430 1089 119 851 26 3070 1666 3223 254 1118 817 102 150 2304 3
Below cutoff 48 137 13 5 507 5 437 318 357 58 46 124 6 1 242 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001178063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA740316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF019413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH011574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL645922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL662834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL662849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL671762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL844853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW515583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY349611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BA000025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX005143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR388219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR759782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR759784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR933857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC349268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC358441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC362624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M15082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M15549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M86920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  N63977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S69641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X04481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X77331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000299367   ⟹   ENSP00000299367
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,927,717 - 31,945,672 (+)Ensembl
RefSeq Acc Id: ENST00000383177   ⟹   ENSP00000372664
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,927,763 - 31,945,624 (+)Ensembl
RefSeq Acc Id: ENST00000411571   ⟹   ENSP00000388727
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,919,941 - 31,937,459 (+)Ensembl
RefSeq Acc Id: ENST00000413154   ⟹   ENSP00000403325
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,919,984 - 31,928,894 (+)Ensembl
RefSeq Acc Id: ENST00000418949   ⟹   ENSP00000406190
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,927,703 - 31,935,058 (+)Ensembl
RefSeq Acc Id: ENST00000442278   ⟹   ENSP00000395683
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,927,496 - 31,945,671 (+)Ensembl
RefSeq Acc Id: ENST00000447952   ⟹   ENSP00000391354
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,927,525 - 31,945,673 (+)Ensembl
RefSeq Acc Id: ENST00000452202   ⟹   ENSP00000406121
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,901,004 - 31,934,295 (+)Ensembl
RefSeq Acc Id: ENST00000452323   ⟹   ENSP00000392322
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,900,999 - 31,945,671 (+)Ensembl
RefSeq Acc Id: ENST00000468407
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,927,735 - 31,945,672 (+)Ensembl
RefSeq Acc Id: ENST00000469372   ⟹   ENSP00000418923
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,897,785 - 31,945,521 (+)Ensembl
RefSeq Acc Id: ENST00000482060   ⟹   ENSP00000418332
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,927,739 - 31,945,391 (+)Ensembl
RefSeq Acc Id: ENST00000484636   ⟹   ENSP00000420305
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,920,096 - 31,935,990 (+)Ensembl
RefSeq Acc Id: ENST00000485690   ⟹   ENSP00000417790
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,934,283 - 31,943,758 (+)Ensembl
RefSeq Acc Id: ENST00000486124
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,936,055 - 31,945,672 (+)Ensembl
RefSeq Acc Id: ENST00000494905   ⟹   ENSP00000419048
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,932,348 - 31,934,282 (+)Ensembl
RefSeq Acc Id: ENST00000497706   ⟹   ENSP00000417482
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,897,787 - 31,945,672 (+)Ensembl
RefSeq Acc Id: ENST00000695637   ⟹   ENSP00000512074
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,897,785 - 31,945,672 (+)Ensembl
RefSeq Acc Id: ENST00000695638   ⟹   ENSP00000512076
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,927,741 - 31,945,672 (+)Ensembl
RefSeq Acc Id: ENST00000695639
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,927,977 - 31,933,975 (+)Ensembl
RefSeq Acc Id: ENST00000695640
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,929,948 - 31,933,973 (+)Ensembl
RefSeq Acc Id: ENST00000695644   ⟹   ENSP00000512079
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,927,742 - 31,945,672 (+)Ensembl
RefSeq Acc Id: ENST00000695645
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,939,142 - 31,943,099 (+)Ensembl
RefSeq Acc Id: ENST00000695646
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,939,229 - 31,943,528 (+)Ensembl
RefSeq Acc Id: NM_000063   ⟹   NP_000054
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38631,927,717 - 31,945,672 (+)NCBI
GRCh37631,865,562 - 31,913,449 (+)NCBI
Build 36632,003,473 - 32,021,427 (+)NCBI Archive
HuRef631,651,618 - 31,700,420 (+)NCBI
CHM1_1631,897,395 - 31,915,532 (+)NCBI
T2T-CHM13v2.0631,780,972 - 31,798,877 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001145903   ⟹   NP_001139375
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38631,927,717 - 31,945,672 (+)NCBI
GRCh37631,865,562 - 31,913,449 (+)NCBI
HuRef631,651,618 - 31,700,420 (+)NCBI
CHM1_1631,897,395 - 31,915,532 (+)NCBI
T2T-CHM13v2.0631,780,972 - 31,798,877 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001178063   ⟹   NP_001171534
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38631,900,999 - 31,945,672 (+)NCBI
GRCh37631,865,562 - 31,913,449 (+)NCBI
HuRef631,651,618 - 31,700,420 (+)NCBI
CHM1_1631,870,917 - 31,915,532 (+)NCBI
T2T-CHM13v2.0631,754,243 - 31,798,877 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001282457   ⟹   NP_001269386
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38631,897,783 - 31,945,672 (+)NCBI
HuRef631,651,618 - 31,700,420 (+)NCBI
CHM1_1631,867,703 - 31,915,532 (+)NCBI
T2T-CHM13v2.0631,751,025 - 31,798,877 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001282458   ⟹   NP_001269387
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38631,927,717 - 31,945,672 (+)NCBI
HuRef631,651,618 - 31,700,420 (+)NCBI
CHM1_1631,897,395 - 31,915,532 (+)NCBI
T2T-CHM13v2.0631,780,972 - 31,798,877 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001282459   ⟹   NP_001269388
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38631,927,717 - 31,935,058 (+)NCBI
HuRef631,651,618 - 31,700,420 (+)NCBI
CHM1_1631,897,395 - 31,904,976 (+)NCBI
T2T-CHM13v2.0631,780,972 - 31,788,263 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000054 (Get FASTA)   NCBI Sequence Viewer  
  NP_001139375 (Get FASTA)   NCBI Sequence Viewer  
  NP_001171534 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269386 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269387 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269388 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA51854 (Get FASTA)   NCBI Sequence Viewer  
  AAA59624 (Get FASTA)   NCBI Sequence Viewer  
  AAA59649 (Get FASTA)   NCBI Sequence Viewer  
  AAB67975 (Get FASTA)   NCBI Sequence Viewer  
  AAB97607 (Get FASTA)   NCBI Sequence Viewer  
  AAH29781 (Get FASTA)   NCBI Sequence Viewer  
  AAH43484 (Get FASTA)   NCBI Sequence Viewer  
  AAM10002 (Get FASTA)   NCBI Sequence Viewer  
  AAQ15273 (Get FASTA)   NCBI Sequence Viewer  
  AQY77241 (Get FASTA)   NCBI Sequence Viewer  
  AQY77242 (Get FASTA)   NCBI Sequence Viewer  
  AQY77243 (Get FASTA)   NCBI Sequence Viewer  
  AQY77244 (Get FASTA)   NCBI Sequence Viewer  
  AQY77245 (Get FASTA)   NCBI Sequence Viewer  
  AQY77246 (Get FASTA)   NCBI Sequence Viewer  
  BAB63292 (Get FASTA)   NCBI Sequence Viewer  
  BAD96257 (Get FASTA)   NCBI Sequence Viewer  
  BAD96503 (Get FASTA)   NCBI Sequence Viewer  
  BAG35475 (Get FASTA)   NCBI Sequence Viewer  
  BAG53241 (Get FASTA)   NCBI Sequence Viewer  
  BAG60565 (Get FASTA)   NCBI Sequence Viewer  
  BAG60943 (Get FASTA)   NCBI Sequence Viewer  
  BAG62532 (Get FASTA)   NCBI Sequence Viewer  
  BAG62560 (Get FASTA)   NCBI Sequence Viewer  
  CAA28169 (Get FASTA)   NCBI Sequence Viewer  
  CAA54545 (Get FASTA)   NCBI Sequence Viewer  
  CAD97767 (Get FASTA)   NCBI Sequence Viewer  
  EAX03548 (Get FASTA)   NCBI Sequence Viewer  
  EAX03549 (Get FASTA)   NCBI Sequence Viewer  
  P06681 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001171534   ⟸   NM_001178063
- Peptide Label: isoform 3
- UniProtKB: P06681 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_000054   ⟸   NM_000063
- Peptide Label: isoform 1 preproprotein
- UniProtKB: Q13904 (UniProtKB/Swiss-Prot),   P06681 (UniProtKB/Swiss-Prot),   Q53HP3 (UniProtKB/TrEMBL),   Q5JP69 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001139375   ⟸   NM_001145903
- Peptide Label: isoform 2 precursor
- UniProtKB: P06681 (UniProtKB/Swiss-Prot),   Q53HP3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269386   ⟸   NM_001282457
- Peptide Label: isoform 4
- UniProtKB: B4DQI1 (UniProtKB/TrEMBL),   Q53HP3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269387   ⟸   NM_001282458
- Peptide Label: isoform 5
- UniProtKB: A0A0G2JL69 (UniProtKB/TrEMBL),   B4DV48 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269388   ⟸   NM_001282459
- Peptide Label: isoform 6 precursor
- UniProtKB: Q8N6L6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000388727   ⟸   ENST00000411571
RefSeq Acc Id: ENSP00000403325   ⟸   ENST00000413154
RefSeq Acc Id: ENSP00000406121   ⟸   ENST00000452202
RefSeq Acc Id: ENSP00000392322   ⟸   ENST00000452323
RefSeq Acc Id: ENSP00000418923   ⟸   ENST00000469372
RefSeq Acc Id: ENSP00000419048   ⟸   ENST00000494905
RefSeq Acc Id: ENSP00000299367   ⟸   ENST00000299367
RefSeq Acc Id: ENSP00000395683   ⟸   ENST00000442278
RefSeq Acc Id: ENSP00000418332   ⟸   ENST00000482060
RefSeq Acc Id: ENSP00000406190   ⟸   ENST00000418949
RefSeq Acc Id: ENSP00000417482   ⟸   ENST00000497706
RefSeq Acc Id: ENSP00000420305   ⟸   ENST00000484636
RefSeq Acc Id: ENSP00000417790   ⟸   ENST00000485690
RefSeq Acc Id: ENSP00000391354   ⟸   ENST00000447952
RefSeq Acc Id: ENSP00000372664   ⟸   ENST00000383177
RefSeq Acc Id: ENSP00000512076   ⟸   ENST00000695638
RefSeq Acc Id: ENSP00000512074   ⟸   ENST00000695637
RefSeq Acc Id: ENSP00000512079   ⟸   ENST00000695644
Protein Domains
Peptidase S1   Sushi   VWFA

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P06681-F1-model_v2 AlphaFold P06681 1-752 view protein structure

Promoters
RGD ID:6872676
Promoter ID:EPDNEW_H9503
Type:multiple initiation site
Name:C2_1
Description:complement C2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9506  EPDNEW_H9507  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38631,897,783 - 31,897,843EPDNEW
RGD ID:6872682
Promoter ID:EPDNEW_H9506
Type:initiation region
Name:C2_3
Description:complement C2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9503  EPDNEW_H9507  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38631,927,525 - 31,927,585EPDNEW
RGD ID:6872684
Promoter ID:EPDNEW_H9507
Type:initiation region
Name:C2_2
Description:complement C2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9503  EPDNEW_H9506  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38631,927,717 - 31,927,777EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000063.6(C2):c.1102C>T (p.Arg368Ter) single nucleotide variant not provided [RCV000722192] Chr6:31937432 [GRCh38]
Chr6:31905209 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.1260G>A (p.Trp420Ter) single nucleotide variant not provided [RCV000722757] Chr6:31942999 [GRCh38]
Chr6:31910776 [GRCh37]
Chr6:6p21.33
uncertain significance
C2, 28-BP DEL deletion C2 deficiency, type I [RCV000012910] Chr6:6p21.3 pathogenic
NM_000063.6(C2):c.626C>T (p.Ser209Phe) single nucleotide variant C2 deficiency, type II [RCV000012911] Chr6:31933876 [GRCh38]
Chr6:31901653 [GRCh37]
Chr6:6p21.33
pathogenic
NM_000063.6(C2):c.1390G>A (p.Gly464Arg) single nucleotide variant C2 deficiency, type II [RCV000012912] Chr6:31943254 [GRCh38]
Chr6:31911031 [GRCh37]
Chr6:6p21.33
pathogenic
NM_000063.6(C2):c.954G>C (p.Glu318Asp) single nucleotide variant Age related macular degeneration 14 [RCV000012913]|Complement component 2 deficiency [RCV000304426]|not provided [RCV001516299]|not specified [RCV000454375] Chr6:31936027 [GRCh38]
Chr6:31903804 [GRCh37]
Chr6:6p21.33
pathogenic|benign|likely benign
NM_000063.6(C2):c.1360+62G>T single nucleotide variant Age related macular degeneration 14 [RCV000012914] Chr6:31943161 [GRCh38]
Chr6:31910938 [GRCh37]
Chr6:6p21.33
pathogenic|protective
NM_000063.5(C2):c.-264-445C>A single nucleotide variant Lung cancer [RCV000096825] Chr6:31927044 [GRCh38]
Chr6:31894821 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.5(C2):c.785C>T (p.Ser262Leu) single nucleotide variant Malignant melanoma [RCV000067294] Chr6:31934235 [GRCh38]
Chr6:31902012 [GRCh37]
Chr6:32009991 [NCBI36]
Chr6:6p21.33
not provided
NM_000063.5(C2):c.1064G>A (p.Arg355Gln) single nucleotide variant Malignant melanoma [RCV000067295] Chr6:31937394 [GRCh38]
Chr6:31905171 [GRCh37]
Chr6:32013150 [NCBI36]
Chr6:6p21.33
not provided
NM_000063.5(C2):c.1096G>A (p.Glu366Lys) single nucleotide variant Malignant melanoma [RCV000061394] Chr6:31937426 [GRCh38]
Chr6:31905203 [GRCh37]
Chr6:32013182 [NCBI36]
Chr6:6p21.33
not provided
NM_001710.5(CFB):c.1518G>A (p.Lys506=) single nucleotide variant Malignant melanoma [RCV000061395] Chr6:31950297 [GRCh38]
Chr6:31918074 [GRCh37]
Chr6:32026053 [NCBI36]
Chr6:6p21.33
not provided
NM_001710.5(CFB):c.804C>T (p.Ser268=) single nucleotide variant Malignant melanoma [RCV000067296] Chr6:31947988 [GRCh38]
Chr6:31915765 [GRCh37]
Chr6:32023744 [NCBI36]
Chr6:6p21.33
not provided
NM_001710.5(CFB):c.1625-81G>T single nucleotide variant Malignant melanoma [RCV000067297] Chr6:31950538 [GRCh38]
Chr6:31918315 [GRCh37]
Chr6:32026294 [NCBI36]
Chr6:6p21.33
not provided
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3
pathogenic
NM_000063.6(C2):c.841_849+19del deletion C2 deficiency, type I [RCV002264641]|Complement component 2 deficiency [RCV000169652]|not provided [RCV000788701] Chr6:31934289..31934316 [GRCh38]
Chr6:31902068..31902095 [GRCh37]
Chr6:6p21.33
pathogenic|likely pathogenic
NM_000063.6(C2):c.1130-11C>T single nucleotide variant Age related macular degeneration 14 [RCV000259678]|Complement component 2 deficiency [RCV000319434]|not provided [RCV001519807] Chr6:31939220 [GRCh38]
Chr6:31906997 [GRCh37]
Chr6:6p21.33
benign|likely benign|uncertain significance
NM_000063.6(C2):c.2253C>T (p.Pro751=) single nucleotide variant Age related macular degeneration 14 [RCV000380442]|Complement component 2 deficiency [RCV000285246]|not provided [RCV002058590] Chr6:31945351 [GRCh38]
Chr6:31913128 [GRCh37]
Chr6:6p21.33
likely benign|uncertain significance
NM_000063.6(C2):c.*82C>T single nucleotide variant Age related macular degeneration 14 [RCV001156600]|Complement component 2 deficiency [RCV000371636]|Macular degeneration [RCV000335609] Chr6:31945439 [GRCh38]
Chr6:31913216 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.1902+5G>A single nucleotide variant Age related macular degeneration 14 [RCV001154080]|Complement component 2 deficiency [RCV000397628]|Macular degeneration [RCV000357361]|not provided [RCV001861274] Chr6:31944231 [GRCh38]
Chr6:31912008 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001178063.3(C2):c.74-6002A>C single nucleotide variant Age related macular degeneration 14 [RCV000319354]|Complement component 2 deficiency [RCV000371411] Chr6:31927608 [GRCh38]
Chr6:31895385 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.1239G>C (p.Val413=) single nucleotide variant Age related macular degeneration 14 [RCV000355600]|Complement component 2 deficiency [RCV000274888] Chr6:31942978 [GRCh38]
Chr6:31910755 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.*183C>T single nucleotide variant Age related macular degeneration 14 [RCV001152914]|Complement component 2 deficiency [RCV000404208]|Macular degeneration [RCV000311069] Chr6:31945540 [GRCh38]
Chr6:31913317 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.81C>T (p.Asn27=) single nucleotide variant Complement component 2 deficiency [RCV000292499]|Macular degeneration [RCV000388941] Chr6:31927989 [GRCh38]
Chr6:31895766 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.1602T>C (p.Leu534=) single nucleotide variant Age related macular degeneration 14 [RCV000406335]|Complement component 2 deficiency [RCV000346110] Chr6:31943678 [GRCh38]
Chr6:31911455 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001178063.3(C2):c.74-5894C>A single nucleotide variant Age related macular degeneration 14 [RCV000279443]|Complement component 2 deficiency [RCV000332101] Chr6:31927716 [GRCh38]
Chr6:31895493 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.1023G>A (p.Ala341=) single nucleotide variant Age related macular degeneration 14 [RCV000361517]|Complement component 2 deficiency [RCV000401133]|not provided [RCV001515635]|not specified [RCV000455074] Chr6:31937353 [GRCh38]
Chr6:31905130 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_000063.6(C2):c.218C>T (p.Pro73Leu) single nucleotide variant Age related macular degeneration 14 [RCV000401915]|Complement component 2 deficiency [RCV000349844]|not provided [RCV002058585] Chr6:31928126 [GRCh38]
Chr6:31895903 [GRCh37]
Chr6:6p21.33
benign|likely benign|uncertain significance
NM_000063.6(C2):c.2201G>T (p.Arg734Leu) single nucleotide variant Age related macular degeneration 14 [RCV000321235]|Complement component 2 deficiency [RCV000266034]|not provided [RCV001850889] Chr6:31945299 [GRCh38]
Chr6:31913076 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.1716G>C (p.Lys572Asn) single nucleotide variant Age related macular degeneration 14 [RCV000342210]|Complement component 2 deficiency [RCV000282916]|not provided [RCV001850888] Chr6:31943792 [GRCh38]
Chr6:31911569 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.*120T>C single nucleotide variant Age related macular degeneration 14 [RCV000281587]|Complement component 2 deficiency [RCV000336855] Chr6:31945477 [GRCh38]
Chr6:31913254 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.1219+7C>T single nucleotide variant not provided [RCV000585334] Chr6:31939327 [GRCh38]
Chr6:31907104 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.313G>A (p.Gly105Arg) single nucleotide variant Age related macular degeneration 14 [RCV000344072]|Complement component 2 deficiency [RCV000291352] Chr6:31928788 [GRCh38]
Chr6:31896565 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.1778G>A (p.Arg593Gln) single nucleotide variant Age related macular degeneration 14 [RCV000407805]|Atypical hemolytic-uremic syndrome [RCV000307096]|Complement component 2 deficiency [RCV001152808]|not provided [RCV002058835] Chr6:31943961 [GRCh38]
Chr6:31911738 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.1598A>G (p.Lys533Arg) single nucleotide variant Atypical hemolytic-uremic syndrome [RCV000397050]|Atypical hemolytic-uremic syndrome with B factor anomaly [RCV001155246]|Complement component 2 deficiency [RCV000405285]|Complement factor b deficiency [RCV000490377]|Macular degeneration [RCV000307542]|not provided [RCV000438164]|not specified [RCV000455606] Chr6:31950377 [GRCh38]
Chr6:31918154 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_000063.6(C2):c.1902+6G>C single nucleotide variant Age related macular degeneration 14 [RCV001095022]|Atypical hemolytic-uremic syndrome [RCV000367408]|Complement component 2 deficiency [RCV000313180]|Macular degeneration [RCV000312698]|not provided [RCV001514655] Chr6:31944232 [GRCh38]
Chr6:31912009 [GRCh37]
Chr6:6p21.33
benign|likely benign|conflicting interpretations of pathogenicity
NM_000063.6(C2):c.1066C>T (p.Leu356Phe) single nucleotide variant Age related macular degeneration 14 [RCV000304402]|Complement component 2 deficiency [RCV000354556] Chr6:31937396 [GRCh38]
Chr6:31905173 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.600C>T (p.Ser200=) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000368978]|Complement component 2 deficiency [RCV000362524]|Macular degeneration [RCV000318910]|not provided [RCV001515475]|not specified [RCV001701870] Chr6:31947463 [GRCh38]
Chr6:31915240 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_001710.6(CFB):c.1365C>T (p.Val455=) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000323227]|Complement component 2 deficiency [RCV000393799]|Macular degeneration [RCV000342850]|not provided [RCV001523286]|not specified [RCV001702357] Chr6:31949514 [GRCh38]
Chr6:31917291 [GRCh37]
Chr6:6p21.33
benign|likely benign|conflicting interpretations of pathogenicity
NM_000063.6(C2):c.2080-8T>C single nucleotide variant Age related macular degeneration 14 [RCV001095050]|Atypical hemolytic-uremic syndrome [RCV000324718]|Complement component 2 deficiency [RCV000329458]|Macular degeneration [RCV000360930]|not provided [RCV002058589] Chr6:31945170 [GRCh38]
Chr6:31912947 [GRCh37]
Chr6:6p21.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000063.6(C2):c.2046A>G (p.Ala682=) single nucleotide variant Age related macular degeneration 14 [RCV001095049]|Atypical hemolytic-uremic syndrome [RCV000355015]|Complement component 2 deficiency [RCV000269678]|Macular degeneration [RCV000260084]|not provided [RCV001511745] Chr6:31944996 [GRCh38]
Chr6:31912773 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_000063.6(C2):c.1360+1G>A single nucleotide variant Atypical hemolytic-uremic syndrome [RCV000260406]|C2-related disorders [RCV000778786]|Macular degeneration [RCV000315667]|not provided [RCV001861354] Chr6:31943100 [GRCh38]
Chr6:31910877 [GRCh37]
Chr6:6p21.33
pathogenic|likely pathogenic|likely benign|uncertain significance
NM_001710.6(CFB):c.504G>A (p.Pro168=) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000353755]|Complement component 2 deficiency [RCV000271771]|Macular degeneration [RCV000263692]|not provided [RCV001516301]|not specified [RCV001701869] Chr6:31947367 [GRCh38]
Chr6:31915144 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_000063.6(C2):c.*304A>G single nucleotide variant Age related macular degeneration 14 [RCV001095002]|Atypical hemolytic-uremic syndrome [RCV000266167]|Complement component 2 deficiency [RCV000351922]|Macular degeneration [RCV000321404] Chr6:31945661 [GRCh38]
Chr6:31913438 [GRCh37]
Chr6:6p21.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001710.6(CFB):c.672C>T (p.Tyr224=) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000326038]|Complement component 2 deficiency [RCV000270236]|Macular degeneration [RCV000332230]|not provided [RCV001519632]|not specified [RCV001700344] Chr6:31947755 [GRCh38]
Chr6:31915532 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_001710.6(CFB):c.1143C>T (p.Arg381=) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000327615]|Complement component 2 deficiency [RCV000285597]|Macular degeneration [RCV000272516]|not provided [RCV000513455] Chr6:31948936 [GRCh38]
Chr6:31916713 [GRCh37]
Chr6:6p21.33
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000063.6(C2):c.1922T>C (p.Val641Ala) single nucleotide variant Age related macular degeneration 14 [RCV001095023]|Atypical hemolytic-uremic syndrome [RCV000406201]|Complement component 2 deficiency [RCV000314384]|Macular degeneration [RCV000277437]|not provided [RCV001516641]|not specified [RCV001702630] Chr6:31944746 [GRCh38]
Chr6:31912523 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) single nucleotide variant Age related macular degeneration 14 [RCV000017458]|Atypical hemolytic-uremic syndrome [RCV000259759]|Atypical hemolytic-uremic syndrome with B factor anomaly [RCV001154197]|BF*FA/S [RCV000017454]|Complement component 2 deficiency [RCV000281261]|Factor B fast/slow polymorphism [RCV000017453]|Macular degeneration [RCV000319518]|not provided [RCV001515636]|not specified [RCV000455762] Chr6:31946403 [GRCh38]
Chr6:31914180 [GRCh37]
Chr6:6p21.33
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|protective
NM_001710.5(CFB):c.94C>T (p.Arg32Trp) single nucleotide variant Atypical hemolytic-uremic syndrome [RCV000293644]|Atypical hemolytic-uremic syndrome with B factor anomaly [RCV001154196]|Complement component 2 deficiency [RCV000324934]|Factor B fast/slow polymorphism [RCV000017455]|Macular degeneration [RCV000324324]|not provided [RCV001510498] Chr6:31946402 [GRCh38]
Chr6:31914179 [GRCh37]
Chr6:6p21.33
benign
NM_001710.6(CFB):c.26T>A (p.Leu9His) single nucleotide variant Age related macular degeneration 14 [RCV000017457]|Atypical hemolytic-uremic syndrome [RCV000264554]|Atypical hemolytic-uremic syndrome with B factor anomaly [RCV001154195]|Complement component 2 deficiency [RCV000385220]|Macular degeneration [RCV000288622]|not provided [RCV001516300]|not specified [RCV000454952] Chr6:31946247 [GRCh38]
Chr6:31914024 [GRCh37]
Chr6:6p21.33
pathogenic|benign|likely benign
NM_001710.6(CFB):c.1137C>T (p.Arg379=) single nucleotide variant Atypical hemolytic-uremic syndrome [RCV000362438]|Atypical hemolytic-uremic syndrome with B factor anomaly [RCV001156807]|Complement component 2 deficiency [RCV000334269]|Macular degeneration [RCV000282122]|not provided [RCV001512629]|not specified [RCV001821084] Chr6:31948930 [GRCh38]
Chr6:31916707 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_000063.6(C2):c.1414G>A (p.Ala472Thr) single nucleotide variant Age related macular degeneration 14 [RCV001095044]|Atypical hemolytic-uremic syndrome [RCV000285510]|Complement component 2 deficiency [RCV000329987]|Macular degeneration [RCV000379644]|not provided [RCV002058586] Chr6:31943278 [GRCh38]
Chr6:31911055 [GRCh37]
Chr6:6p21.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000063.6(C2):c.1529G>A (p.Arg510His) single nucleotide variant Age related macular degeneration 14 [RCV001095132]|Atypical hemolytic-uremic syndrome [RCV000346703]|Complement component 2 deficiency [RCV000380934]|Macular degeneration [RCV000291215]|not provided [RCV002058588] Chr6:31943489 [GRCh38]
Chr6:31911266 [GRCh37]
Chr6:6p21.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001710.6(CFB):c.754G>A (p.Gly252Ser) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000397763]|Complement component 2 deficiency [RCV000292626]|Macular degeneration [RCV000342226]|not provided [RCV001509707] Chr6:31947837 [GRCh38]
Chr6:31915614 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_000063.6(C2):c.1450A>G (p.Ile484Val) single nucleotide variant Age related macular degeneration 14 [RCV001095045]|Atypical hemolytic-uremic syndrome [RCV000340424]|Complement component 2 deficiency [RCV000294690]|Macular degeneration [RCV000326280]|not provided [RCV002058587] Chr6:31943314 [GRCh38]
Chr6:31911091 [GRCh37]
Chr6:6p21.33
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001710.6(CFB):c.221G>A (p.Arg74His) single nucleotide variant Atypical hemolytic-uremic syndrome [RCV000294898]|Atypical hemolytic-uremic syndrome with B factor anomaly [RCV001155035]|Complement component 2 deficiency [RCV000404287]|Macular degeneration [RCV000338675]|not provided [RCV002058591] Chr6:31946529 [GRCh38]
Chr6:31914306 [GRCh37]
Chr6:6p21.33
benign|likely benign
Single allele variation Complement component 2 deficiency [RCV000296644]|Macular degeneration [RCV000349223] Chr6:31914179..31914180 [GRCh37] benign
NM_000063.6(C2):c.1835G>A (p.Ser612Asn) single nucleotide variant Age related macular degeneration 14 [RCV001094998]|Atypical hemolytic-uremic syndrome [RCV000402567]|Complement component 2 deficiency [RCV000297858]|Macular degeneration [RCV000352503]|not provided [RCV001437246] Chr6:31944159 [GRCh38]
Chr6:31911936 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.405C>T (p.Tyr135=) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000301807]|Complement component 2 deficiency [RCV000298747]|Macular degeneration [RCV000360649]|not provided [RCV001512220] Chr6:31947113 [GRCh38]
Chr6:31914890 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_001710.6(CFB):c.450A>G (p.Arg150=) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000298932]|Complement component 2 deficiency [RCV000302130]|Complement factor b deficiency [RCV001578999]|Macular degeneration [RCV000393257]|not provided [RCV001515637] Chr6:31947158 [GRCh38]
Chr6:31914935 [GRCh37]
Chr6:6p21.33
benign
NM_001710.6(CFB):c.858C>T (p.Phe286=) single nucleotide variant Atypical hemolytic-uremic syndrome [RCV000300468]|Atypical hemolytic-uremic syndrome with B factor anomaly [RCV001155150]|Complement component 2 deficiency [RCV000374284]|Macular degeneration [RCV000331208]|not provided [RCV001517537]|not specified [RCV001821083] Chr6:31948042 [GRCh38]
Chr6:31915819 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_001710.6(CFB):c.1524C>T (p.His508=) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000405956]|Complement component 2 deficiency [RCV000346187]|Macular degeneration [RCV000303114]|not provided [RCV001514656]|not specified [RCV001821085] Chr6:31950303 [GRCh38]
Chr6:31918080 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_000063.6(C2):c.980A>G (p.Asn327Ser) single nucleotide variant Age related macular degeneration 14 [RCV001152692]|Complement component 2 deficiency [RCV001152693]|not provided [RCV001882474] Chr6:31936053 [GRCh38]
Chr6:31903830 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.345C>T (p.Phe115=) single nucleotide variant not provided [RCV000585056] Chr6:31928820 [GRCh38]
Chr6:31896597 [GRCh37]
Chr6:6p21.33
conflicting interpretations of pathogenicity|uncertain significance
NM_000063.6(C2):c.73C>T (p.Pro25Ser) single nucleotide variant Age related macular degeneration 14 [RCV001152585]|Complement component 2 deficiency [RCV001152586]|not provided [RCV002070854] Chr6:31927981 [GRCh38]
Chr6:31895758 [GRCh37]
Chr6:6p21.33
likely benign|uncertain significance
GRCh37/hg19 6p21.33(chr6:31384577-31902308)x3 copy number gain See cases [RCV000448679] Chr6:31384577..31902308 [GRCh37]
Chr6:6p21.33
uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p22.1-21.32(chr6:28130359-32108367)x3 copy number gain not provided [RCV000745592] Chr6:28130359..32108367 [GRCh37]
Chr6:6p22.1-21.32
uncertain significance
NM_000063.6(C2):c.988+5G>A single nucleotide variant Complement component 2 deficiency [RCV000767910] Chr6:31936066 [GRCh38]
Chr6:31903843 [GRCh37]
Chr6:6p21.33
uncertain significance
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1
pathogenic
NM_000063.6(C2):c.1482_1483delinsC (p.Ala495fs) indel not provided [RCV000788635] Chr6:31943442..31943443 [GRCh38]
Chr6:31911219..31911220 [GRCh37]
Chr6:6p21.33
likely pathogenic
NM_000063.6(C2):c.149C>T (p.Ser50Phe) single nucleotide variant Age related macular degeneration 14 [RCV001152590]|Complement component 2 deficiency [RCV001152589] Chr6:31928057 [GRCh38]
Chr6:31895834 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.442+15T>G single nucleotide variant Age related macular degeneration 14 [RCV001156491]|Complement component 2 deficiency [RCV001156490]|not provided [RCV001461153] Chr6:31928932 [GRCh38]
Chr6:31896709 [GRCh37]
Chr6:6p21.33
likely benign|uncertain significance
NM_000063.6(C2):c.1109C>T (p.Ala370Val) single nucleotide variant Age related macular degeneration 14 [RCV001153971]|Complement component 2 deficiency [RCV001153970]|not provided [RCV001882479] Chr6:31937439 [GRCh38]
Chr6:31905216 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.929A>G (p.Asn310Ser) single nucleotide variant Age related macular degeneration 14 [RCV001158165]|Complement component 2 deficiency [RCV001158166]|not provided [RCV001297597] Chr6:31936002 [GRCh38]
Chr6:31903779 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.-36G>A single nucleotide variant Age related macular degeneration 14 [RCV001158056]|Complement component 2 deficiency [RCV001158055] Chr6:31927717 [GRCh38]
Chr6:31895494 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.1082C>T (p.Thr361Met) single nucleotide variant Age related macular degeneration 14 [RCV001153968]|Complement component 2 deficiency [RCV001153969] Chr6:31937412 [GRCh38]
Chr6:31905189 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.1169A>C (p.Asp390Ala) single nucleotide variant Age related macular degeneration 14 [RCV001153973]|Complement component 2 deficiency [RCV001153972]|not provided [RCV002032419] Chr6:31939270 [GRCh38]
Chr6:31907047 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.839_849del (p.Met280fs) deletion Complement component 2 deficiency [RCV001169995] Chr6:31934289..31934299 [GRCh38]
Chr6:31902066..31902076 [GRCh37]
Chr6:6p21.33
likely pathogenic
NM_000063.6(C2):c.109C>T (p.Leu37Phe) single nucleotide variant Age related macular degeneration 14 [RCV001152588]|Complement component 2 deficiency [RCV001152587] Chr6:31928017 [GRCh38]
Chr6:31895794 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.386G>A (p.Arg129His) single nucleotide variant Age related macular degeneration 14 [RCV001156488]|Complement component 2 deficiency [RCV001156489]|not provided [RCV002032443] Chr6:31928861 [GRCh38]
Chr6:31896638 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.*141C>T single nucleotide variant Age related macular degeneration 14 [RCV001156602]|Complement component 2 deficiency [RCV001156601] Chr6:31945498 [GRCh38]
Chr6:31913275 [GRCh37]
Chr6:6p21.33
uncertain significance
GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3 copy number gain not provided [RCV001005791] Chr6:31036397..34088832 [GRCh37]
Chr6:6p21.33-21.31
likely pathogenic
NM_000063.6(C2):c.1413C>T (p.Asn471=) single nucleotide variant Age related macular degeneration 14 [RCV001154820]|Complement component 2 deficiency [RCV001154821]|not provided [RCV001499261] Chr6:31943277 [GRCh38]
Chr6:31911054 [GRCh37]
Chr6:6p21.33
likely benign|uncertain significance
NM_000063.6(C2):c.913C>T (p.Leu305Phe) single nucleotide variant Age related macular degeneration 14 [RCV001158164]|Complement component 2 deficiency [RCV001158163] Chr6:31935986 [GRCh38]
Chr6:31903763 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.1613C>T (p.Ala538Val) single nucleotide variant Age related macular degeneration 14 [RCV001152806]|Complement component 2 deficiency [RCV001152807]|not provided [RCV002070859] Chr6:31943689 [GRCh38]
Chr6:31911466 [GRCh37]
Chr6:6p21.33
likely benign|uncertain significance
NM_000063.6(C2):c.*286T>C single nucleotide variant Age related macular degeneration 14 [RCV001152915]|Complement component 2 deficiency [RCV001152916] Chr6:31945643 [GRCh38]
Chr6:31913420 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.1981G>A (p.Asp661Asn) single nucleotide variant Age related macular degeneration 14 [RCV001154081]|Complement component 2 deficiency [RCV001154082]|not provided [RCV001859006] Chr6:31944805 [GRCh38]
Chr6:31912582 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.2200C>T (p.Arg734Cys) single nucleotide variant Age related macular degeneration 14 [RCV001154924]|Complement component 2 deficiency [RCV001154923]|not provided [RCV001517268] Chr6:31945298 [GRCh38]
Chr6:31913075 [GRCh37]
Chr6:6p21.33
benign|uncertain significance
NM_000063.6(C2):c.245C>T (p.Ala82Val) single nucleotide variant Age related macular degeneration 14 [RCV001153864]|Complement component 2 deficiency [RCV001153865]|not provided [RCV002032417] Chr6:31928153 [GRCh38]
Chr6:31895930 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.819C>T (p.Phe273=) single nucleotide variant Age related macular degeneration 14 [RCV001158161]|Complement component 2 deficiency [RCV001158162] Chr6:31934269 [GRCh38]
Chr6:31902046 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.936C>G (p.Asn312Lys) single nucleotide variant Age related macular degeneration 14 [RCV001158168]|Complement component 2 deficiency [RCV001158167]|not provided [RCV002070950] Chr6:31936009 [GRCh38]
Chr6:31903786 [GRCh37]
Chr6:6p21.33
benign|likely benign|uncertain significance
NM_000063.6(C2):c.1577A>G (p.Lys526Arg) single nucleotide variant Age related macular degeneration 14 [RCV001158285]|Atypical hemolytic-uremic syndrome with B factor anomaly [RCV001158288]|Complement component 2 deficiency [RCV001158286]|Macular degeneration [RCV001158287]|not provided [RCV002032465] Chr6:31943653 [GRCh38]
Chr6:31911430 [GRCh37]
Chr6:6p21.33
likely benign|uncertain significance
NM_000063.6(C2):c.337G>A (p.Val113Met) single nucleotide variant Age related macular degeneration 14 [RCV001153868]|Complement component 2 deficiency [RCV001153869] Chr6:31928812 [GRCh38]
Chr6:31896589 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.-21G>A single nucleotide variant Age related macular degeneration 14 [RCV001158057]|Complement component 2 deficiency [RCV001158058] Chr6:31927732 [GRCh38]
Chr6:31895509 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.283T>G (p.Phe95Val) single nucleotide variant Age related macular degeneration 14 [RCV001153867]|Complement component 2 deficiency [RCV001153866] Chr6:31928758 [GRCh38]
Chr6:31896535 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.443-4G>A single nucleotide variant Age related macular degeneration 14 [RCV001156492]|Complement component 2 deficiency [RCV001156493]|not provided [RCV001523079] Chr6:31933606 [GRCh38]
Chr6:31901383 [GRCh37]
Chr6:6p21.33
benign|likely benign|uncertain significance
NM_000063.6(C2):c.749C>G (p.Ser250Cys) single nucleotide variant Age related macular degeneration 14 [RCV001156495]|Complement component 2 deficiency [RCV001156494]|not provided [RCV001528361] Chr6:31934199 [GRCh38]
Chr6:31901976 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.1399A>C (p.Asn467His) single nucleotide variant Complement component 2 deficiency [RCV001267742] Chr6:31943263 [GRCh38]
Chr6:31911040 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.664A>G (p.Thr222Ala) single nucleotide variant not provided [RCV001982645] Chr6:31933914 [GRCh38]
Chr6:31901691 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.849+59G>A single nucleotide variant Complement component 2 deficiency [RCV001281034] Chr6:31934358 [GRCh38]
Chr6:31902135 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.2155C>T (p.Arg719Cys) single nucleotide variant not provided [RCV001343039] Chr6:31945253 [GRCh38]
Chr6:31913030 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.1107T>C (p.His369=) single nucleotide variant not provided [RCV001396531] Chr6:31937437 [GRCh38]
Chr6:31905214 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.92C>T (p.Ser31Leu) single nucleotide variant not provided [RCV001322195] Chr6:31928000 [GRCh38]
Chr6:31895777 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.2171C>T (p.Pro724Leu) single nucleotide variant Complement component 2 deficiency [RCV001334186]|not provided [RCV002070178] Chr6:31945269 [GRCh38]
Chr6:31913046 [GRCh37]
Chr6:6p21.33
likely benign|uncertain significance
NM_000063.6(C2):c.1588G>A (p.Gly530Ser) single nucleotide variant not provided [RCV001402814] Chr6:31943664 [GRCh38]
Chr6:31911441 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.876C>T (p.Ser292=) single nucleotide variant not provided [RCV001444441] Chr6:31935949 [GRCh38]
Chr6:31903726 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.850-7C>T single nucleotide variant not provided [RCV001405313] Chr6:31935916 [GRCh38]
Chr6:31903693 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.443-16C>T single nucleotide variant not provided [RCV001519446] Chr6:31933594 [GRCh38]
Chr6:31901371 [GRCh37]
Chr6:6p21.33
benign
NM_000063.6(C2):c.1567+22_1567+43del deletion not provided [RCV001513361] Chr6:31943546..31943567 [GRCh38]
Chr6:31911323..31911344 [GRCh37]
Chr6:6p21.33
benign
NM_000063.6(C2):c.1644C>T (p.Ala548=) single nucleotide variant not provided [RCV001477917] Chr6:31943720 [GRCh38]
Chr6:31911497 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.1495G>A (p.Asp499Asn) single nucleotide variant not provided [RCV001987820] Chr6:31943455 [GRCh38]
Chr6:31911232 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.2141G>A (p.Arg714His) single nucleotide variant not provided [RCV002044880] Chr6:31945239 [GRCh38]
Chr6:31913016 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.1105C>A (p.His369Asn) single nucleotide variant not provided [RCV001874322] Chr6:31937435 [GRCh38]
Chr6:31905212 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.637C>A (p.Pro213Thr) single nucleotide variant not provided [RCV001967845] Chr6:31933887 [GRCh38]
Chr6:31901664 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.1262G>A (p.Arg421Lys) single nucleotide variant not provided [RCV002009279] Chr6:31943001 [GRCh38]
Chr6:31910778 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.37del (p.Leu13fs) deletion not provided [RCV002007551] Chr6:31927788 [GRCh38]
Chr6:31895565 [GRCh37]
Chr6:6p21.33
pathogenic
NM_000063.6(C2):c.1417T>G (p.Ser473Ala) single nucleotide variant not provided [RCV001888949] Chr6:31943281 [GRCh38]
Chr6:31911058 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.1902+3G>A single nucleotide variant not provided [RCV001970300] Chr6:31944229 [GRCh38]
Chr6:31912006 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.176C>A (p.Pro59Gln) single nucleotide variant not provided [RCV002008331] Chr6:31928084 [GRCh38]
Chr6:31895861 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.437A>G (p.Asn146Ser) single nucleotide variant not provided [RCV002009376] Chr6:31928912 [GRCh38]
Chr6:31896689 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.551C>T (p.Thr184Met) single nucleotide variant not provided [RCV002023283] Chr6:31933718 [GRCh38]
Chr6:31901495 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.797C>T (p.Ser266Leu) single nucleotide variant not provided [RCV001985307] Chr6:31934247 [GRCh38]
Chr6:31902024 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.526C>T (p.Arg176Cys) single nucleotide variant not provided [RCV001985361] Chr6:31933693 [GRCh38]
Chr6:31901470 [GRCh37]
Chr6:6p21.33
uncertain significance
GRCh37/hg19 6p21.33(chr6:31384577-31902308) copy number gain not specified [RCV002053564] Chr6:31384577..31902308 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.2201G>A (p.Arg734His) single nucleotide variant not provided [RCV002004978] Chr6:31945299 [GRCh38]
Chr6:31913076 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.223G>A (p.Ala75Thr) single nucleotide variant not provided [RCV002022569] Chr6:31928131 [GRCh38]
Chr6:31895908 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.616C>G (p.Gln206Glu) single nucleotide variant not provided [RCV001871431] Chr6:31933783 [GRCh38]
Chr6:31901560 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.2174C>T (p.Pro725Leu) single nucleotide variant not provided [RCV001965782] Chr6:31945272 [GRCh38]
Chr6:31913049 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.614G>A (p.Arg205His) single nucleotide variant not provided [RCV001969970] Chr6:31933781 [GRCh38]
Chr6:31901558 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.421A>G (p.Thr141Ala) single nucleotide variant not provided [RCV001985564] Chr6:31928896 [GRCh38]
Chr6:31896673 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.1911C>G (p.Ser637Arg) single nucleotide variant not provided [RCV001913854] Chr6:31944735 [GRCh38]
Chr6:31912512 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.371G>A (p.Arg124Gln) single nucleotide variant not provided [RCV001945659] Chr6:31928846 [GRCh38]
Chr6:31896623 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.2203A>G (p.Met735Val) single nucleotide variant not provided [RCV001986433] Chr6:31945301 [GRCh38]
Chr6:31913078 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.941G>A (p.Arg314Gln) single nucleotide variant not provided [RCV001963331] Chr6:31936014 [GRCh38]
Chr6:31903791 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.520C>T (p.Arg174Cys) single nucleotide variant not provided [RCV002001201] Chr6:31933687 [GRCh38]
Chr6:31901464 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.1552T>G (p.Trp518Gly) single nucleotide variant not provided [RCV001899202] Chr6:31943512 [GRCh38]
Chr6:31911289 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.446G>C (p.Gly149Ala) single nucleotide variant not provided [RCV001918142] Chr6:31933613 [GRCh38]
Chr6:31901390 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.1308C>G (p.Ala436=) single nucleotide variant not provided [RCV002029947] Chr6:31943047 [GRCh38]
Chr6:31910824 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.1819C>G (p.Leu607Val) single nucleotide variant not provided [RCV001901006] Chr6:31944143 [GRCh38]
Chr6:31911920 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.931G>A (p.Asp311Asn) single nucleotide variant not provided [RCV002016996] Chr6:31936004 [GRCh38]
Chr6:31903781 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.844G>C (p.Asp282His) single nucleotide variant not provided [RCV002037411] Chr6:31934294 [GRCh38]
Chr6:31902071 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.728G>A (p.Arg243His) single nucleotide variant not provided [RCV001879670] Chr6:31934178 [GRCh38]
Chr6:31901955 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.1811-3T>C single nucleotide variant not provided [RCV001943553] Chr6:31944132 [GRCh38]
Chr6:31911909 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.1846C>T (p.His616Tyr) single nucleotide variant not provided [RCV002037497] Chr6:31944170 [GRCh38]
Chr6:31911947 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.1360+3G>A single nucleotide variant not provided [RCV001963651] Chr6:31943102 [GRCh38]
Chr6:31910879 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.1591A>G (p.Lys531Glu) single nucleotide variant not provided [RCV001924062] Chr6:31943667 [GRCh38]
Chr6:31911444 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.988+4C>T single nucleotide variant not provided [RCV001957566] Chr6:31936065 [GRCh38]
Chr6:31903842 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.2097G>C (p.Trp699Cys) single nucleotide variant not provided [RCV002014195] Chr6:31945195 [GRCh38]
Chr6:31912972 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.1324A>G (p.Thr442Ala) single nucleotide variant not provided [RCV001989914] Chr6:31943063 [GRCh38]
Chr6:31910840 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.377C>T (p.Ser126Leu) single nucleotide variant not provided [RCV001991268] Chr6:31928852 [GRCh38]
Chr6:31896629 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.1913G>A (p.Cys638Tyr) single nucleotide variant not provided [RCV001935854] Chr6:31944737 [GRCh38]
Chr6:31912514 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.1201A>C (p.Lys401Gln) single nucleotide variant not provided [RCV001877778] Chr6:31939302 [GRCh38]
Chr6:31907079 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.966C>A (p.Ser322Arg) single nucleotide variant not provided [RCV001930177] Chr6:31936039 [GRCh38]
Chr6:31903816 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.2251C>A (p.Pro751Thr) single nucleotide variant not provided [RCV001995811] Chr6:31945349 [GRCh38]
Chr6:31913126 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.517G>A (p.Val173Ile) single nucleotide variant not provided [RCV001898545] Chr6:31933684 [GRCh38]
Chr6:31901461 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.1103G>C (p.Arg368Pro) single nucleotide variant not provided [RCV002049953] Chr6:31937433 [GRCh38]
Chr6:31905210 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.2168C>T (p.Pro723Leu) single nucleotide variant not provided [RCV002047698] Chr6:31945266 [GRCh38]
Chr6:31913043 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.229C>T (p.Arg77Trp) single nucleotide variant not provided [RCV001900263] Chr6:31928137 [GRCh38]
Chr6:31895914 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.2197T>C (p.Phe733Leu) single nucleotide variant not provided [RCV001961499] Chr6:31945295 [GRCh38]
Chr6:31913072 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.262C>T (p.Arg88Cys) single nucleotide variant not provided [RCV001937125] Chr6:31928737 [GRCh38]
Chr6:31896514 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.2029+5G>A single nucleotide variant not provided [RCV001905551] Chr6:31944858 [GRCh38]
Chr6:31912635 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.1748C>G (p.Pro583Arg) single nucleotide variant not provided [RCV002030549] Chr6:31943931 [GRCh38]
Chr6:31911708 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.158A>G (p.Gln53Arg) single nucleotide variant not provided [RCV001883537] Chr6:31928066 [GRCh38]
Chr6:31895843 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.370C>T (p.Arg124Trp) single nucleotide variant not provided [RCV002034139] Chr6:31928845 [GRCh38]
Chr6:31896622 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.583G>C (p.Gly195Arg) single nucleotide variant not provided [RCV001900608] Chr6:31933750 [GRCh38]
Chr6:31901527 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.2075T>C (p.Phe692Ser) single nucleotide variant not provided [RCV001959645] Chr6:31945025 [GRCh38]
Chr6:31912802 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.1757T>C (p.Met586Thr) single nucleotide variant not provided [RCV001997827] Chr6:31943940 [GRCh38]
Chr6:31911717 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.797C>G (p.Ser266Trp) single nucleotide variant not provided [RCV001982063] Chr6:31934247 [GRCh38]
Chr6:31902024 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.685G>A (p.Gly229Arg) single nucleotide variant not provided [RCV001998959] Chr6:31933935 [GRCh38]
Chr6:31901712 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.1478G>A (p.Arg493Gln) single nucleotide variant not provided [RCV001997515] Chr6:31943438 [GRCh38]
Chr6:31911215 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.259G>C (p.Val87Leu) single nucleotide variant not provided [RCV001939012] Chr6:31928734 [GRCh38]
Chr6:31896511 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.1567+4A>G single nucleotide variant not provided [RCV001996298] Chr6:31943531 [GRCh38]
Chr6:31911308 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.246G>A (p.Ala82=) single nucleotide variant not provided [RCV001996358] Chr6:31928154 [GRCh38]
Chr6:31895931 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.231G>A (p.Arg77=) single nucleotide variant not provided [RCV002092883] Chr6:31928139 [GRCh38]
Chr6:31895916 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.1917C>T (p.Ala639=) single nucleotide variant not provided [RCV002108718] Chr6:31944741 [GRCh38]
Chr6:31912518 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.716-19C>G single nucleotide variant not provided [RCV002108984] Chr6:31934147 [GRCh38]
Chr6:31901924 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.873G>T (p.Val291=) single nucleotide variant not provided [RCV002110948] Chr6:31935946 [GRCh38]
Chr6:31903723 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.579C>A (p.Gly193=) single nucleotide variant not provided [RCV002112517] Chr6:31933746 [GRCh38]
Chr6:31901523 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.207G>A (p.Gln69=) single nucleotide variant not provided [RCV002128566] Chr6:31928115 [GRCh38]
Chr6:31895892 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.1389C>T (p.Cys463=) single nucleotide variant not provided [RCV002190794] Chr6:31943253 [GRCh38]
Chr6:31911030 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.2172G>A (p.Pro724=) single nucleotide variant not provided [RCV002147375] Chr6:31945270 [GRCh38]
Chr6:31913047 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.1233C>T (p.Ile411=) single nucleotide variant not provided [RCV002109297] Chr6:31942972 [GRCh38]
Chr6:31910749 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.90C>A (p.Ile30=) single nucleotide variant not provided [RCV002209426] Chr6:31927998 [GRCh38]
Chr6:31895775 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.1811-16del deletion not provided [RCV002153872] Chr6:31944116 [GRCh38]
Chr6:31911893 [GRCh37]
Chr6:6p21.33
benign
NM_000063.6(C2):c.1811-5TA[3] microsatellite not provided [RCV002081137] Chr6:31944129..31944130 [GRCh38]
Chr6:31911906..31911907 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.989-7A>G single nucleotide variant not provided [RCV002094009] Chr6:31937312 [GRCh38]
Chr6:31905089 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.600G>A (p.Thr200=) single nucleotide variant not provided [RCV002173921] Chr6:31933767 [GRCh38]
Chr6:31901544 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.1482G>T (p.Gly494=) single nucleotide variant not provided [RCV002132828] Chr6:31943442 [GRCh38]
Chr6:31911219 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.483G>A (p.Val161=) single nucleotide variant not provided [RCV002174026] Chr6:31933650 [GRCh38]
Chr6:31901427 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.1733+16G>C single nucleotide variant not provided [RCV002115103] Chr6:31943825 [GRCh38]
Chr6:31911602 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.477C>T (p.Gly159=) single nucleotide variant not provided [RCV002197345] Chr6:31933644 [GRCh38]
Chr6:31901421 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.309G>T (p.Arg103=) single nucleotide variant not provided [RCV002132454] Chr6:31928784 [GRCh38]
Chr6:31896561 [GRCh37]
Chr6:6p21.33
benign
NM_000063.6(C2):c.324C>T (p.Pro108=) single nucleotide variant not provided [RCV002171181] Chr6:31928799 [GRCh38]
Chr6:31896576 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.2030-16C>T single nucleotide variant not provided [RCV002206473] Chr6:31944964 [GRCh38]
Chr6:31912741 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.1811-18C>T single nucleotide variant not provided [RCV002171852] Chr6:31944117 [GRCh38]
Chr6:31911894 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.1455+17del deletion not provided [RCV002094439] Chr6:31943333 [GRCh38]
Chr6:31911110 [GRCh37]
Chr6:6p21.33
benign
NM_000063.6(C2):c.165G>A (p.Leu55=) single nucleotide variant not provided [RCV002170785] Chr6:31928073 [GRCh38]
Chr6:31895850 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.582C>T (p.Asn194=) single nucleotide variant not provided [RCV002150665] Chr6:31933749 [GRCh38]
Chr6:31901526 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.60G>A (p.Ser20=) single nucleotide variant not provided [RCV002194716] Chr6:31927968 [GRCh38]
Chr6:31895745 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.402C>T (p.Asn134=) single nucleotide variant not provided [RCV002095063] Chr6:31928877 [GRCh38]
Chr6:31896654 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.201C>T (p.Ser67=) single nucleotide variant not provided [RCV002152038] Chr6:31928109 [GRCh38]
Chr6:31895886 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.1734-13C>T single nucleotide variant not provided [RCV002215798] Chr6:31943904 [GRCh38]
Chr6:31911681 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.2080-11C>G single nucleotide variant not provided [RCV002193603] Chr6:31945167 [GRCh38]
Chr6:31912944 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.716-14C>T single nucleotide variant not provided [RCV002178330] Chr6:31934152 [GRCh38]
Chr6:31901929 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.1965C>T (p.Val655=) single nucleotide variant not provided [RCV002182764] Chr6:31944789 [GRCh38]
Chr6:31912566 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.850-8C>T single nucleotide variant not provided [RCV002184760] Chr6:31935915 [GRCh38]
Chr6:31903692 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.988+16C>T single nucleotide variant not provided [RCV002139803] Chr6:31936077 [GRCh38]
Chr6:31903854 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.256+11C>T single nucleotide variant not provided [RCV002124254] Chr6:31928175 [GRCh38]
Chr6:31895952 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.1733+19_1733+21del deletion not provided [RCV002164011] Chr6:31943828..31943830 [GRCh38]
Chr6:31911605..31911607 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.850-6G>A single nucleotide variant not provided [RCV002180324] Chr6:31935917 [GRCh38]
Chr6:31903694 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.2112C>T (p.Pro704=) single nucleotide variant not provided [RCV002201469] Chr6:31945210 [GRCh38]
Chr6:31912987 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.798G>A (p.Ser266=) single nucleotide variant not provided [RCV002101999] Chr6:31934248 [GRCh38]
Chr6:31902025 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.1914T>C (p.Cys638=) single nucleotide variant not provided [RCV002154461] Chr6:31944738 [GRCh38]
Chr6:31912515 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.1455+19A>G single nucleotide variant not provided [RCV002141165] Chr6:31943338 [GRCh38]
Chr6:31911115 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.257-10C>T single nucleotide variant not provided [RCV002198257] Chr6:31928722 [GRCh38]
Chr6:31896499 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.46+16G>A single nucleotide variant not provided [RCV002102379] Chr6:31927814 [GRCh38]
Chr6:31895591 [GRCh37]
Chr6:6p21.33
benign
NM_000063.6(C2):c.279C>T (p.Val93=) single nucleotide variant not provided [RCV002082418] Chr6:31928754 [GRCh38]
Chr6:31896531 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.930C>T (p.Asn310=) single nucleotide variant not provided [RCV002084492] Chr6:31936003 [GRCh38]
Chr6:31903780 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.989-9A>G single nucleotide variant not provided [RCV002201140] Chr6:31937310 [GRCh38]
Chr6:31905087 [GRCh37]
Chr6:6p21.33
likely benign
NM_000063.6(C2):c.613C>T (p.Arg205Cys) single nucleotide variant not provided [RCV002273619] Chr6:31933780 [GRCh38]
Chr6:31901557 [GRCh37]
Chr6:6p21.33
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1248 AgrOrtholog
COSMIC C2 COSMIC
Ensembl Genes ENSG00000166278 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000204364 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000206372 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000226560 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000231543 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000235017 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000235696 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000299367 ENTREZGENE
  ENSP00000299367.5 UniProtKB/Swiss-Prot
  ENSP00000364660.4 UniProtKB/Swiss-Prot
  ENSP00000372664.3 UniProtKB/TrEMBL
  ENSP00000372850.3 UniProtKB/TrEMBL
  ENSP00000372853.4 UniProtKB/Swiss-Prot
  ENSP00000372858.2 UniProtKB/TrEMBL
  ENSP00000387374.1 UniProtKB/TrEMBL
  ENSP00000388286.1 UniProtKB/TrEMBL
  ENSP00000388727.2 UniProtKB/TrEMBL
  ENSP00000389650.1 UniProtKB/TrEMBL
  ENSP00000389865.1 UniProtKB/TrEMBL
  ENSP00000390302.1 UniProtKB/TrEMBL
  ENSP00000390659.1 UniProtKB/TrEMBL
  ENSP00000391314.1 UniProtKB/TrEMBL
  ENSP00000391354.2 UniProtKB/TrEMBL
  ENSP00000391400.1 UniProtKB/TrEMBL
  ENSP00000391508.1 UniProtKB/TrEMBL
  ENSP00000392182.1 UniProtKB/TrEMBL
  ENSP00000392322 ENTREZGENE
  ENSP00000392322.2 UniProtKB/Swiss-Prot
  ENSP00000392445.1 UniProtKB/TrEMBL
  ENSP00000392835.2 UniProtKB/Swiss-Prot
  ENSP00000393055.1 UniProtKB/TrEMBL
  ENSP00000395426.1 UniProtKB/TrEMBL
  ENSP00000395683 ENTREZGENE
  ENSP00000395683.2 UniProtKB/Swiss-Prot
  ENSP00000396369.1 UniProtKB/TrEMBL
  ENSP00000398098.1 UniProtKB/TrEMBL
  ENSP00000400097.1 UniProtKB/TrEMBL
  ENSP00000400362.1 UniProtKB/TrEMBL
  ENSP00000401708.1 UniProtKB/TrEMBL
  ENSP00000402278.2 UniProtKB/Swiss-Prot
  ENSP00000403325.1 UniProtKB/TrEMBL
  ENSP00000403658.1 UniProtKB/TrEMBL
  ENSP00000404144.1 UniProtKB/TrEMBL
  ENSP00000404452.1 UniProtKB/TrEMBL
  ENSP00000405701.1 UniProtKB/TrEMBL
  ENSP00000405749.1 UniProtKB/TrEMBL
  ENSP00000405800.2 UniProtKB/Swiss-Prot
  ENSP00000406121.1 UniProtKB/TrEMBL
  ENSP00000406190 ENTREZGENE
  ENSP00000406190.2 UniProtKB/TrEMBL
  ENSP00000407961.2 UniProtKB/Swiss-Prot
  ENSP00000408250.1 UniProtKB/TrEMBL
  ENSP00000409041.1 UniProtKB/TrEMBL
  ENSP00000410904.1 UniProtKB/TrEMBL
  ENSP00000411298.1 UniProtKB/TrEMBL
  ENSP00000411376.1 UniProtKB/TrEMBL
  ENSP00000412289.1 UniProtKB/TrEMBL
  ENSP00000413295.1 UniProtKB/TrEMBL
  ENSP00000413482.1 UniProtKB/TrEMBL
  ENSP00000413995.1 UniProtKB/TrEMBL
  ENSP00000416484.1 UniProtKB/TrEMBL
  ENSP00000416938.1 UniProtKB/TrEMBL
  ENSP00000417482.1 UniProtKB/TrEMBL
  ENSP00000417790.1 UniProtKB/TrEMBL
  ENSP00000418332.1 UniProtKB/TrEMBL
  ENSP00000418923 ENTREZGENE
  ENSP00000418923.1 UniProtKB/TrEMBL
  ENSP00000419048.1 UniProtKB/TrEMBL
  ENSP00000420305.1 UniProtKB/TrEMBL
  ENSP00000446639.1 UniProtKB/Swiss-Prot
  ENSP00000446728.1 UniProtKB/Swiss-Prot
  ENSP00000447134.1 UniProtKB/TrEMBL
  ENSP00000447458.2 UniProtKB/TrEMBL
  ENSP00000447632.1 UniProtKB/Swiss-Prot
  ENSP00000448602.2 UniProtKB/TrEMBL
  ENSP00000449286.1 UniProtKB/Swiss-Prot
  ENSP00000449345.2 UniProtKB/TrEMBL
  ENSP00000449366.2 UniProtKB/TrEMBL
  ENSP00000449715.1 UniProtKB/Swiss-Prot
  ENSP00000449823.2 UniProtKB/TrEMBL
  ENSP00000449940.1 UniProtKB/TrEMBL
  ENSP00000450180.2 UniProtKB/TrEMBL
  ENSP00000450387.1 UniProtKB/Swiss-Prot
  ENSP00000478351.1 UniProtKB/TrEMBL
  ENSP00000480739.1 UniProtKB/Swiss-Prot
  ENSP00000481651.1 UniProtKB/Swiss-Prot
  ENSP00000482072.1 UniProtKB/TrEMBL
  ENSP00000482188.1 UniProtKB/TrEMBL
  ENSP00000482616.1 UniProtKB/Swiss-Prot
  ENSP00000483004.1 UniProtKB/TrEMBL
  ENSP00000483231.1 UniProtKB/Swiss-Prot
  ENSP00000512074 ENTREZGENE
Ensembl Transcript ENST00000299367 ENTREZGENE
  ENST00000299367.10 UniProtKB/Swiss-Prot
  ENST00000375510.8 UniProtKB/Swiss-Prot
  ENST00000383177.7 UniProtKB/TrEMBL
  ENST00000383359.7 UniProtKB/TrEMBL
  ENST00000383362.8 UniProtKB/Swiss-Prot
  ENST00000383367.6 UniProtKB/TrEMBL
  ENST00000411571.6 UniProtKB/TrEMBL
  ENST00000411803.6 UniProtKB/Swiss-Prot
  ENST00000411830.5 UniProtKB/TrEMBL
  ENST00000411885.5 UniProtKB/TrEMBL
  ENST00000413154.5 UniProtKB/TrEMBL
  ENST00000413548.6 UniProtKB/Swiss-Prot
  ENST00000413649.1 UniProtKB/TrEMBL
  ENST00000414609.5 UniProtKB/TrEMBL
  ENST00000415985.5 UniProtKB/TrEMBL
  ENST00000416252.6 UniProtKB/Swiss-Prot
  ENST00000416456.5 UniProtKB/TrEMBL
  ENST00000417322.5 UniProtKB/TrEMBL
  ENST00000418584.5 UniProtKB/TrEMBL
  ENST00000418949 ENTREZGENE
  ENST00000418949.6 UniProtKB/TrEMBL
  ENST00000419062.5 UniProtKB/TrEMBL
  ENST00000421932.5 UniProtKB/TrEMBL
  ENST00000422470.5 UniProtKB/TrEMBL
  ENST00000423826.5 UniProtKB/TrEMBL
  ENST00000428140.5 UniProtKB/TrEMBL
  ENST00000428349.5 UniProtKB/TrEMBL
  ENST00000431247.5 UniProtKB/TrEMBL
  ENST00000432285.5 UniProtKB/TrEMBL
  ENST00000433109.5 UniProtKB/TrEMBL
  ENST00000435104.5 UniProtKB/TrEMBL
  ENST00000435596.5 UniProtKB/TrEMBL
  ENST00000436560.5 UniProtKB/TrEMBL
  ENST00000437162.5 UniProtKB/TrEMBL
  ENST00000437394.1 UniProtKB/TrEMBL
  ENST00000439426.5 UniProtKB/TrEMBL
  ENST00000440861.1 UniProtKB/TrEMBL
  ENST00000442278 ENTREZGENE
  ENST00000442278.6 UniProtKB/Swiss-Prot
  ENST00000445056.1 UniProtKB/TrEMBL
  ENST00000446097.5 UniProtKB/TrEMBL
  ENST00000447164.1 UniProtKB/TrEMBL
  ENST00000447952.6 UniProtKB/TrEMBL
  ENST00000448206.6 UniProtKB/Swiss-Prot
  ENST00000449293.1 UniProtKB/TrEMBL
  ENST00000449738.5 UniProtKB/TrEMBL
  ENST00000452202.5 UniProtKB/TrEMBL
  ENST00000452323 ENTREZGENE
  ENST00000452323.6 UniProtKB/Swiss-Prot
  ENST00000452763.5 UniProtKB/TrEMBL
  ENST00000455713.5 UniProtKB/TrEMBL
  ENST00000457446.5 UniProtKB/TrEMBL
  ENST00000458410.5 UniProtKB/TrEMBL
  ENST00000458436.5 UniProtKB/TrEMBL
  ENST00000469372 ENTREZGENE
  ENST00000469372.5 UniProtKB/TrEMBL
  ENST00000482060.5 UniProtKB/TrEMBL
  ENST00000484636.1 UniProtKB/TrEMBL
  ENST00000485690.5 UniProtKB/TrEMBL
  ENST00000494905.1 UniProtKB/TrEMBL
  ENST00000497706.5 UniProtKB/TrEMBL
  ENST00000547984.3 UniProtKB/TrEMBL
  ENST00000548250.5 UniProtKB/TrEMBL
  ENST00000548500.4 UniProtKB/TrEMBL
  ENST00000548828.4 UniProtKB/TrEMBL
  ENST00000548973.5 UniProtKB/Swiss-Prot
  ENST00000548995.3 UniProtKB/Swiss-Prot
  ENST00000549972.3 UniProtKB/Swiss-Prot
  ENST00000549997.5 UniProtKB/TrEMBL
  ENST00000550045.5 UniProtKB/TrEMBL
  ENST00000550363.4 UniProtKB/TrEMBL
  ENST00000550682.5 UniProtKB/Swiss-Prot
  ENST00000551081.4 UniProtKB/Swiss-Prot
  ENST00000551648.5 UniProtKB/Swiss-Prot
  ENST00000552638.3 UniProtKB/TrEMBL
  ENST00000612228.1 UniProtKB/Swiss-Prot
  ENST00000613837.3 UniProtKB/TrEMBL
  ENST00000614291.3 UniProtKB/TrEMBL
  ENST00000615380.4 UniProtKB/Swiss-Prot
  ENST00000615801.3 UniProtKB/TrEMBL
  ENST00000618254.4 UniProtKB/Swiss-Prot
  ENST00000618948.4 UniProtKB/TrEMBL
  ENST00000621558.4 UniProtKB/Swiss-Prot
  ENST00000695637 ENTREZGENE
Gene3D-CATH 2.40.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.410 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000166278 GTEx
  ENSG00000204364 GTEx
  ENSG00000206372 GTEx
  ENSG00000226560 GTEx
  ENSG00000231543 GTEx
  ENSG00000235017 GTEx
  ENSG00000235696 GTEx
HGNC ID HGNC:1248 ENTREZGENE
Human Proteome Map C2 Human Proteome Map
InterPro Compl_C2_B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Complement_C2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1_PA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1_PA_chymotrypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sushi/SCR/CCP_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sushi_SCR_CCP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Trypsin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWF_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  vWFA_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:717 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 717 ENTREZGENE
OMIM 217000 OMIM
  613927 OMIM
  615489 OMIM
PANTHER PTHR46393 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR46393:SF2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Sushi UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Trypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25637 PharmGKB
PIRSF Compl_C2_B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS CHYMOTRYPSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SUSHI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWFA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CCP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tryp_SPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50494 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF53300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57535 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0G2JHM4_HUMAN UniProtKB/TrEMBL
  A0A0G2JI59_HUMAN UniProtKB/TrEMBL
  A0A0G2JIE7_HUMAN UniProtKB/TrEMBL
  A0A0G2JJ82_HUMAN UniProtKB/TrEMBL
  A0A0G2JJM0_HUMAN UniProtKB/TrEMBL
  A0A0G2JK28_HUMAN UniProtKB/TrEMBL
  A0A0G2JL69 ENTREZGENE, UniProtKB/TrEMBL
  A2ABG0_HUMAN UniProtKB/TrEMBL
  B4DQI1 ENTREZGENE, UniProtKB/TrEMBL
  B4DV48 ENTREZGENE, UniProtKB/TrEMBL
  C9JYQ5_HUMAN UniProtKB/TrEMBL
  CO2_HUMAN UniProtKB/Swiss-Prot
  E9PDZ0_HUMAN UniProtKB/TrEMBL
  F2Z306_HUMAN UniProtKB/TrEMBL
  F2Z3N2_HUMAN UniProtKB/TrEMBL
  F8WCJ9_HUMAN UniProtKB/TrEMBL
  H0Y3H6_HUMAN UniProtKB/TrEMBL
  H0Y868_HUMAN UniProtKB/TrEMBL
  P06681 ENTREZGENE
  Q13904 ENTREZGENE
  Q53HP3 ENTREZGENE, UniProtKB/TrEMBL
  Q5JP69 ENTREZGENE, UniProtKB/TrEMBL
  Q5ST52_HUMAN UniProtKB/TrEMBL
  Q6LBG4_HUMAN UniProtKB/TrEMBL
  Q6LDG4_HUMAN UniProtKB/TrEMBL
  Q86SV5_HUMAN UniProtKB/TrEMBL
  Q8N6L6 ENTREZGENE, UniProtKB/TrEMBL
  Q95IG1_HUMAN UniProtKB/TrEMBL
UniProt Secondary B4DPF3 UniProtKB/Swiss-Prot
  B4DV20 UniProtKB/Swiss-Prot
  E9PFN7 UniProtKB/Swiss-Prot
  O19694 UniProtKB/Swiss-Prot
  Q13904 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-08-23 C2  complement C2    complement component 2  Symbol and/or name change 5135510 APPROVED
2011-08-16 C2  complement component 2  C2  complement component 2  Symbol and/or name change 5135510 APPROVED