Linked Data
dbSNP Id:
rs2149271358
gnomAD v4:
2-25240338-G-A
MyVariant Identifiers:
chr2:g.25463207G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25240338G>A , CM000664.2:g.25240338G>A | GRCh38 |
| NC_000002.11:g.25463207G>A , CM000664.1:g.25463207G>A | GRCh37 |
| NC_000002.10:g.25316711G>A | NCBI36 |
| NG_029465.2:g.107253C>T , LRG_459:g.107253C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474887.6:c.605C>T | ||
| ENST00000683393.1:c.1432C>T | ENSP00000508654.1:n.1432C>T | |
| ENST00000683760.1:c.1617C>T | ENSP00000507765.1:p.Gly539= | |
| ENST00000321117.10:c.2286C>T MANE Select | ENSP00000324375.5:p.Gly762= | |
| ENST00000264709.7:c.2286C>T | ENSP00000264709.3:p.Gly762= | |
| ENST00000321117.9:c.2286C>T | ENSP00000324375.5:p.Gly762= | |
| ENST00000380746.8:c.1719C>T | ENSP00000370122.4:p.Gly573= | |
| ENST00000380756.7:c.2286C>T | ENSP00000370132.3:p.Gly762= | |
| ENST00000402667.1:c.1617C>T | ENSP00000384237.1:p.Gly539= | |
| ENST00000461228.1:n.505C>T | ||
| ENST00000466601.5:n.658C>T | ||
| ENST00000474887.5:n.605C>T | ||
| ENST00000482935.5:n.286C>T | ||
| ENST00000491288.5:n.310+302C>T | ||
| NM_022552.4:c.2286C>T , LRG_459t1:c.2286C>T | NP_072046.2:p.Gly762= | |
| NM_153759.3:c.1719C>T , LRG_459t2:c.1719C>T | NP_715640.2:p.Gly573= | |
| NM_175629.2:c.2286C>T , LRG_459t4:c.2286C>T | NP_783328.1:p.Gly762= | |
| XM_005264175.3:c.2286C>T | XP_005264232.1:p.Gly762= | |
| XM_005264177.3:c.1617C>T | XP_005264234.1:p.Gly539= | |
| XM_006711957.2:c.2286C>T | XP_006712020.1:p.Gly762= | |
| XM_006711958.2:c.1842C>T | XP_006712021.1:p.Gly614= | |
| XM_011532662.1:c.2139C>T | XP_011530964.1:p.Gly713= | |
| XM_011532663.1:c.2121C>T | XP_011530965.1:p.Gly707= | |
| XM_011532664.1:c.2286C>T | XP_011530966.1:p.Gly762= | |
| XM_011532665.1:c.1830C>T | XP_011530967.1:p.Gly610= | |
| XM_011532666.1:c.1758C>T | XP_011530968.1:p.Gly586= | |
| XM_011532667.1:c.1617C>T | XP_011530969.1:p.Gly539= | |
| XM_011532668.1:c.2286C>T | XP_011530970.1:p.Gly762= | |
| NM_001320893.1:c.1830C>T | NP_001307822.1:p.Gly610= | |
| NR_135490.1:n.2624C>T | ||
| XM_005264175.5:c.2286C>T | XP_005264232.1:p.Gly762= | |
| XM_005264177.4:c.1617C>T | XP_005264234.1:p.Gly539= | |
| XM_011532662.2:c.2139C>T | XP_011530964.1:p.Gly713= | |
| XM_011532663.2:c.2121C>T | XP_011530965.1:p.Gly707= | |
| XM_011532664.2:c.2286C>T | XP_011530966.1:p.Gly762= | |
| XM_011532666.2:c.1758C>T | XP_011530968.1:p.Gly586= | |
| XM_011532667.3:c.1617C>T | XP_011530969.1:p.Gly539= | |
| XM_017003526.1:c.2286C>T | XP_016859015.1:p.Gly762= | |
| XM_017003527.1:c.1617C>T | XP_016859016.1:p.Gly539= | |
| XR_001738657.1:n.2563C>T | ||
| NM_001375819.1:c.1617C>T | NP_001362748.1:p.Gly539= | |
| NR_135490.2:n.2517C>T | ||
| NM_022552.5:c.2286C>T MANE Select | NP_072046.2:p.Gly762= |