Linked Data
ClinVar Variation Id:
1810287
ClinVar RCV Id:
RCV002508991
dbSNP Id:
rs1166765403
gnomAD v4:
2-25243899-T-A
MyVariant Identifiers:
chr2:g.25466768T>A (hg19)
MutSpliceDB:
CA425182088
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25243899T>A , CM000664.2:g.25243899T>A | GRCh38 |
| NC_000002.11:g.25466768T>A , CM000664.1:g.25466768T>A | GRCh37 |
| NC_000002.10:g.25320272T>A | NCBI36 |
| NG_029465.2:g.103692A>T , LRG_459:g.103692A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474887.6:c.254A>T | ||
| ENST00000683393.1:c.1081A>T | ENSP00000508654.1:n.1081A>T | |
| ENST00000683760.1:c.1266A>T | ENSP00000507765.1:p.Thr422= | |
| ENST00000321117.10:c.1935A>T MANE Select | ENSP00000324375.5:p.Thr645= | |
| ENST00000264709.7:c.1935A>T | ENSP00000264709.3:p.Thr645= | |
| ENST00000321117.9:c.1935A>T | ENSP00000324375.5:p.Thr645= | |
| ENST00000380746.8:c.1368A>T | ENSP00000370122.4:p.Thr456= | |
| ENST00000380756.7:c.1935A>T | ENSP00000370132.3:p.Thr645= | |
| ENST00000402667.1:c.1266A>T | ENSP00000384237.1:p.Thr422= | |
| ENST00000461228.1:n.84A>T | ||
| ENST00000474887.5:n.254A>T | ||
| ENST00000482935.5:n.81A>T | ||
| ENST00000491288.5:n.72A>T | ||
| NM_022552.4:c.1935A>T , LRG_459t1:c.1935A>T | NP_072046.2:p.Thr645= | |
| NM_153759.3:c.1368A>T , LRG_459t2:c.1368A>T | NP_715640.2:p.Thr456= | |
| NM_175629.2:c.1935A>T , LRG_459t4:c.1935A>T | NP_783328.1:p.Thr645= | |
| XM_005264175.3:c.1935A>T | XP_005264232.1:p.Thr645= | |
| XM_005264177.3:c.1266A>T | XP_005264234.1:p.Thr422= | |
| XM_006711957.2:c.1935A>T | XP_006712020.1:p.Thr645= | |
| XM_006711958.2:c.1491A>T | XP_006712021.1:p.Thr497= | |
| XM_011532662.1:c.1788A>T | XP_011530964.1:p.Thr596= | |
| XM_011532663.1:c.1770A>T | XP_011530965.1:p.Thr590= | |
| XM_011532664.1:c.1935A>T | XP_011530966.1:p.Thr645= | |
| XM_011532665.1:c.1479A>T | XP_011530967.1:p.Thr493= | |
| XM_011532666.1:c.1407A>T | XP_011530968.1:p.Thr469= | |
| XM_011532667.1:c.1266A>T | XP_011530969.1:p.Thr422= | |
| XM_011532668.1:c.1935A>T | XP_011530970.1:p.Thr645= | |
| NM_001320893.1:c.1479A>T | NP_001307822.1:p.Thr493= | |
| NR_135490.1:n.2273A>T | ||
| XM_005264175.5:c.1935A>T | XP_005264232.1:p.Thr645= | |
| XM_005264177.4:c.1266A>T | XP_005264234.1:p.Thr422= | |
| XM_011532662.2:c.1788A>T | XP_011530964.1:p.Thr596= | |
| XM_011532663.2:c.1770A>T | XP_011530965.1:p.Thr590= | |
| XM_011532664.2:c.1935A>T | XP_011530966.1:p.Thr645= | |
| XM_011532666.2:c.1407A>T | XP_011530968.1:p.Thr469= | |
| XM_011532667.3:c.1266A>T | XP_011530969.1:p.Thr422= | |
| XM_017003526.1:c.1935A>T | XP_016859015.1:p.Thr645= | |
| XM_017003527.1:c.1266A>T | XP_016859016.1:p.Thr422= | |
| XR_001738657.1:n.2212A>T | ||
| NM_001375819.1:c.1266A>T | NP_001362748.1:p.Thr422= | |
| NR_135490.2:n.2166A>T | ||
| NM_022552.5:c.1935A>T MANE Select | NP_072046.2:p.Thr645= |