Linked Data
dbSNP Id:
rs2105051091
gnomAD v4:
2-120978541-G-A
MyVariant Identifiers:
chr2:g.121736117G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.120978541G>A , CM000664.2:g.120978541G>A | GRCh38 |
| NC_000002.11:g.121736117G>A , CM000664.1:g.121736117G>A | GRCh37 |
| NC_000002.10:g.121452587G>A | NCBI36 |
| NG_009030.1:g.186251G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361492.9:c.1425G>A MANE Select | ENSP00000354586.5:p.Val475= | |
| ENST00000452319.6:c.1476G>A | ENSP00000390436.1:p.Val492= | |
| ENST00000314490.15:c.489G>A | ENSP00000312694.12:p.Val163= | |
| ENST00000341310.10:c.*524G>A | ENSP00000344473.6:n.*524G>A | |
| ENST00000361492.8:c.1476G>A | ENSP00000354586.4:p.Val492= | |
| ENST00000435313.6:n.1450G>A | ||
| ENST00000437950.5:c.*575G>A | ENSP00000415773.1:n.*575G>A | |
| ENST00000438299.5:c.*575G>A | ENSP00000400593.1:n.*575G>A | |
| ENST00000445186.5:c.*575G>A | ENSP00000397488.1:n.*575G>A | |
| ENST00000452319.5:c.1476G>A | ENSP00000390436.1:p.Val492= | |
| ENST00000452692.5:c.*524G>A | ENSP00000403715.1:n.*524G>A | |
| NM_005270.4:c.1476G>A | NP_005261.2:p.Val492= | |
| XM_006712422.1:c.1425G>A | XP_006712485.1:p.Val475= | |
| XM_011510969.1:c.1458G>A | XP_011509271.1:p.Val486= | |
| XM_011510970.1:c.1335G>A | XP_011509272.1:p.Val445= | |
| XM_011510971.1:c.1281G>A | XP_011509273.1:p.Val427= | |
| XM_011510972.1:c.1281G>A | XP_011509274.1:p.Val427= | |
| XM_011510973.1:c.1101G>A | XP_011509275.1:p.Val367= | |
| XM_011510974.1:c.1050G>A | XP_011509276.1:p.Val350= | |
| XM_006712422.3:c.1425G>A | XP_006712485.1:p.Val475= | |
| XM_011510969.2:c.1728G>A | XP_011509271.2:p.Val576= | |
| XM_011510970.2:c.1335G>A | XP_011509272.1:p.Val445= | |
| XM_011510971.2:c.1281G>A | XP_011509273.1:p.Val427= | |
| XM_011510972.2:c.1377G>A | XP_011509274.2:p.Val459= | |
| XM_011510973.2:c.1101G>A | XP_011509275.1:p.Val367= | |
| XM_011510974.2:c.1050G>A | XP_011509276.1:p.Val350= | |
| XM_017003818.1:c.1677G>A | XP_016859307.1:p.Val559= | |
| XM_024452794.1:c.1476G>A | XP_024308562.1:p.Val492= | |
| XM_024452795.1:c.1476G>A | XP_024308563.1:p.Val492= | |
| NM_001371271.1:c.1476G>A | NP_001358200.1:p.Val492= | |
| NM_001374353.1:c.1425G>A MANE Select | NP_001361282.1:p.Val475= | |
| NM_001374354.1:c.1050G>A | NP_001361283.1:p.Val350= | |
| NM_005270.5:c.1476G>A | NP_005261.2:p.Val492= |