Linked Data
dbSNP Id:
rs2105050927
gnomAD v4:
2-120978502-G-A
MyVariant Identifiers:
chr2:g.121736078G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.120978502G>A , CM000664.2:g.120978502G>A | GRCh38 |
| NC_000002.11:g.121736078G>A , CM000664.1:g.121736078G>A | GRCh37 |
| NC_000002.10:g.121452548G>A | NCBI36 |
| NG_009030.1:g.186212G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361492.9:c.1386G>A MANE Select | ENSP00000354586.5:p.Arg462= | |
| ENST00000452319.6:c.1437G>A | ENSP00000390436.1:p.Arg479= | |
| ENST00000314490.15:c.450G>A | ENSP00000312694.12:p.Arg150= | |
| ENST00000341310.10:c.*485G>A | ENSP00000344473.6:n.*485G>A | |
| ENST00000361492.8:c.1437G>A | ENSP00000354586.4:p.Arg479= | |
| ENST00000435313.6:n.1411G>A | ||
| ENST00000437950.5:c.*536G>A | ENSP00000415773.1:n.*536G>A | |
| ENST00000438299.5:c.*536G>A | ENSP00000400593.1:n.*536G>A | |
| ENST00000445186.5:c.*536G>A | ENSP00000397488.1:n.*536G>A | |
| ENST00000452319.5:c.1437G>A | ENSP00000390436.1:p.Arg479= | |
| ENST00000452692.5:c.*485G>A | ENSP00000403715.1:n.*485G>A | |
| NM_005270.4:c.1437G>A | NP_005261.2:p.Arg479= | |
| XM_006712422.1:c.1386G>A | XP_006712485.1:p.Arg462= | |
| XM_011510969.1:c.1419G>A | XP_011509271.1:p.Arg473= | |
| XM_011510970.1:c.1296G>A | XP_011509272.1:p.Arg432= | |
| XM_011510971.1:c.1242G>A | XP_011509273.1:p.Arg414= | |
| XM_011510972.1:c.1242G>A | XP_011509274.1:p.Arg414= | |
| XM_011510973.1:c.1062G>A | XP_011509275.1:p.Arg354= | |
| XM_011510974.1:c.1011G>A | XP_011509276.1:p.Arg337= | |
| XM_006712422.3:c.1386G>A | XP_006712485.1:p.Arg462= | |
| XM_011510969.2:c.1689G>A | XP_011509271.2:p.Arg563= | |
| XM_011510970.2:c.1296G>A | XP_011509272.1:p.Arg432= | |
| XM_011510971.2:c.1242G>A | XP_011509273.1:p.Arg414= | |
| XM_011510972.2:c.1338G>A | XP_011509274.2:p.Arg446= | |
| XM_011510973.2:c.1062G>A | XP_011509275.1:p.Arg354= | |
| XM_011510974.2:c.1011G>A | XP_011509276.1:p.Arg337= | |
| XM_017003818.1:c.1638G>A | XP_016859307.1:p.Arg546= | |
| XM_024452794.1:c.1437G>A | XP_024308562.1:p.Arg479= | |
| XM_024452795.1:c.1437G>A | XP_024308563.1:p.Arg479= | |
| NM_001371271.1:c.1437G>A | NP_001358200.1:p.Arg479= | |
| NM_001374353.1:c.1386G>A MANE Select | NP_001361282.1:p.Arg462= | |
| NM_001374354.1:c.1011G>A | NP_001361283.1:p.Arg337= | |
| NM_005270.5:c.1437G>A | NP_005261.2:p.Arg479= |