Linked Data
gnomAD v4:
2-219425700-C-G
COSMIC:
COSM719874
MyVariant Identifiers:
chr2:g.220290422C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219425700C>G , CM000664.2:g.219425700C>G | GRCh38 |
| NC_000002.11:g.220290422C>G , CM000664.1:g.220290422C>G | GRCh37 |
| NC_000002.10:g.219998666C>G | NCBI36 |
| NG_008043.1:g.12324C>G , LRG_380:g.12324C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000477226.6:n.800C>G | ||
| ENST00000683013.1:n.714C>G | ||
| ENST00000373960.4:c.1326C>G MANE Select | ENSP00000363071.3:p.Thr442= | |
| ENST00000373960.3:c.1326C>G | ENSP00000363071.3:p.Thr442= | |
| ENST00000483395.1:n.181C>G | ||
| NM_001927.3:c.1326C>G , LRG_380t1:c.1326C>G | NP_001918.3:p.Thr442= | |
| NM_001927.4:c.1326C>G MANE Select | NP_001918.3:p.Thr442= | |
| NM_001382708.1:c.1323C>G | NP_001369637.1:p.Thr441= | |
| NM_001382709.1:c.894C>G | NP_001369638.1:p.Thr298= | |
| NM_001382710.1:c.1257C>G | NP_001369639.1:p.Thr419= | |
| NM_001382711.1:c.1305C>G | NP_001369640.1:p.Thr435= | |
| NM_001382712.1:c.1326C>G | NP_001369641.1:p.Thr442= | |
| NM_001382713.1:c.1056C>G | NP_001369642.1:p.Thr352= |