Linked Data
dbSNP Id:
rs1575014937
COSMIC:
COSM1016738
MyVariant Identifiers:
chr2:g.220286163G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219421441G>A , CM000664.2:g.219421441G>A | GRCh38 |
| NC_000002.11:g.220286163G>A , CM000664.1:g.220286163G>A | GRCh37 |
| NC_000002.10:g.219994407G>A | NCBI36 |
| NG_008043.1:g.8065G>A , LRG_380:g.8065G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477226.6:n.599G>A | ||
| ENST00000683013.1:n.513G>A | ||
| ENST00000373960.4:c.1125G>A MANE Select | ENSP00000363071.3:p.Arg375= | |
| ENST00000373960.3:c.1125G>A | ENSP00000363071.3:p.Arg375= | |
| ENST00000477226.5:n.597G>A | ||
| ENST00000492726.1:n.520G>A | ||
| NM_001927.3:c.1125G>A , LRG_380t1:c.1125G>A | NP_001918.3:p.Arg375= | |
| NM_001927.4:c.1125G>A MANE Select | NP_001918.3:p.Arg375= | |
| NM_001382708.1:c.1122G>A | NP_001369637.1:p.Arg374= | |
| NM_001382709.1:c.736-43G>A | NP_001369638.1:n.736-43G>A | |
| NM_001382710.1:c.1056G>A | NP_001369639.1:p.Arg352= | |
| NM_001382711.1:c.1104G>A | NP_001369640.1:p.Arg368= | |
| NM_001382712.1:c.1125G>A | NP_001369641.1:p.Arg375= | |
| NM_001382713.1:c.855G>A | NP_001369642.1:p.Arg285= |