Linked Data
ClinVar Variation Id:
1158268
ClinVar RCV Id:
RCV001501612
dbSNP Id:
rs2065151365
gnomAD v3:
2-227164795-G-T
gnomAD v4:
2-227164795-G-T
MyVariant Identifiers:
chr2:g.228029511G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227164795G>T , CM000664.2:g.227164795G>T | GRCh38 |
| NC_000002.11:g.228029511G>T , CM000664.1:g.228029511G>T | GRCh37 |
| NC_000002.10:g.227737755G>T | NCBI36 |
| NG_011591.1:g.5231G>T , LRG_230:g.5231G>T | |
| NG_011592.1:g.4765C>A , LRG_231:g.4765C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396578.8:c.69G>T MANE Select | ENSP00000379823.3:p.Ala23= | |
| ENST00000396578.7:c.69G>T | ENSP00000379823.3:p.Ala23= | |
| NM_000091.4:c.69G>T , LRG_230t1:c.69G>T | NP_000082.2:p.Ala23= | |
| XM_005246276.2:c.69G>T | XP_005246333.1:p.Ala23= | |
| XM_005246277.2:c.69G>T | XP_005246334.1:p.Ala23= | |
| XM_005246280.2:c.69G>T | XP_005246337.1:p.Ala23= | |
| XM_006712245.2:c.69G>T | XP_006712308.1:p.Ala23= | |
| XM_011510555.1:c.69G>T | XP_011508857.1:p.Ala23= | |
| XR_241280.2:n.207G>T | ||
| XM_005246277.3:c.69G>T | XP_005246334.1:p.Ala23= | |
| XM_005246280.3:c.69G>T | XP_005246337.1:p.Ala23= | |
| XM_006712245.3:c.69G>T | XP_006712308.1:p.Ala23= | |
| XM_017003295.1:c.69G>T | XP_016858784.1:p.Ala23= | |
| XR_001738601.1:n.207G>T | ||
| XR_241280.3:n.207G>T | ||
| NM_000091.5:c.69G>T MANE Select | NP_000082.2:p.Ala23= |