Linked Data
ClinVar Variation Id:
1604776
ClinVar RCV Id:
RCV002134803
dbSNP Id:
rs1682826273
gnomAD v3:
2-162282379-A-T
gnomAD v4:
2-162282379-A-T
MyVariant Identifiers:
chr2:g.163138889A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162282379A>T , CM000664.2:g.162282379A>T | GRCh38 |
| NC_000002.11:g.163138889A>T , CM000664.1:g.163138889A>T | GRCh37 |
| NC_000002.10:g.162847135A>T | NCBI36 |
| NG_011495.1:g.41151T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697291.1:c.*890T>A | ENSP00000513228.1:n.*890T>A | |
| ENST00000648433.1:c.1293T>A | ENSP00000496816.1:p.Gly431= | |
| ENST00000649554.1:n.903T>A | ||
| ENST00000649979.2:c.1293T>A MANE Select | ENSP00000497271.1:p.Gly431= | |
| ENST00000679938.1:c.981T>A | ENSP00000505518.1:p.Gly327= | |
| ENST00000263642.2:c.1293T>A | ENSP00000263642.2:p.Gly431= | |
| NM_022168.3:c.1293T>A | NP_071451.2:p.Gly431= | |
| XM_011511628.1:c.576T>A | XP_011509930.1:p.Gly192= | |
| XM_011511629.1:c.1293T>A | XP_011509931.1:p.Gly431= | |
| NM_022168.4:c.1293T>A MANE Select | NP_071451.2:p.Gly431= |