Linked Data
dbSNP Id:
rs2104917655
COSMIC:
COSM1177396
MyVariant Identifiers:
chr2:g.136873051C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.136115481C>T , CM000664.2:g.136115481C>T | GRCh38 |
| NC_000002.11:g.136873051C>T , CM000664.1:g.136873051C>T | GRCh37 |
| NC_000002.10:g.136589521C>T | NCBI36 |
| NG_011587.1:g.7675G>A , LRG_51:g.7675G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696136.1:c.435G>A | ENSP00000512428.1:p.Lys145= | |
| ENST00000696137.1:c.402G>A | ENSP00000512429.1:p.Lys134= | |
| ENST00000696152.1:c.402G>A | ENSP00000512443.1:p.Lys134= | |
| ENST00000696228.1:c.435G>A | ENSP00000512494.1:p.Lys145= | |
| ENST00000241393.4:c.447G>A MANE Select | ENSP00000241393.3:p.Lys149= | |
| ENST00000241393.3:c.447G>A | ENSP00000241393.3:p.Lys149= | |
| ENST00000409817.1:c.459G>A | ENSP00000386884.1:p.Lys153= | |
| ENST00000466288.1:n.641G>A | ||
| NM_001008540.1:c.459G>A | NP_001008540.1:p.Lys153= | |
| NM_003467.2:c.447G>A , LRG_51t1:c.447G>A | NP_003458.1:p.Lys149= | |
| NM_001008540.2:c.459G>A | NP_001008540.1:p.Lys153= | |
| NM_001348056.1:c.660G>A | NP_001334985.1:p.Lys220= | |
| NM_001348059.1:c.546G>A | NP_001334988.1:p.Lys182= | |
| NM_001348060.1:c.402G>A | NP_001334989.1:p.Lys134= | |
| NM_001348056.2:c.660G>A | NP_001334985.1:p.Lys220= | |
| NM_001348059.2:c.546G>A | NP_001334988.1:p.Lys182= | |
| NM_001348060.2:c.402G>A | NP_001334989.1:p.Lys134= | |
| NM_003467.3:c.447G>A MANE Select | NP_003458.1:p.Lys149= |