Linked Data
gnomAD v4:
2-144398634-G-C
COSMIC:
COSM6466287
MyVariant Identifiers:
chr2:g.145156201G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144398634G>C , CM000664.2:g.144398634G>C | GRCh38 |
| NC_000002.11:g.145156201G>C , CM000664.1:g.145156201G>C | GRCh37 |
| NC_000002.10:g.144872671G>C | NCBI36 |
| NG_016431.1:g.126758C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689298.1:c.*2402C>G | ENSP00000508434.1:n.*2402C>G | |
| ENST00000440875.6:c.1776C>G | ENSP00000475553.3:p.Ser592= | |
| ENST00000627532.3:c.2553C>G MANE Select | ENSP00000487174.1:p.Ser851= | |
| ENST00000636026.2:c.2553C>G | ENSP00000490776.1:p.Ser851= | |
| ENST00000636179.1:n.2522C>G | ||
| ENST00000636413.1:c.2217C>G | ENSP00000490508.1:p.Ser739= | |
| ENST00000636471.1:c.2628C>G | ENSP00000490317.1:p.Ser876= | |
| ENST00000636732.2:c.*2270C>G | ENSP00000490175.1:n.*2270C>G | |
| ENST00000636820.1:n.2653C>G | ||
| ENST00000637045.1:c.2217C>G | ENSP00000490141.1:p.Ser739= | |
| ENST00000637304.1:c.2217C>G | ENSP00000490872.1:p.Ser739= | |
| ENST00000638007.1:c.2217C>G | ENSP00000490723.1:p.Ser739= | |
| ENST00000638087.1:c.2217C>G | ENSP00000490673.1:p.Ser739= | |
| ENST00000638128.1:c.1776C>G | ENSP00000490934.1:p.Ser592= | |
| ENST00000675069.1:c.84C>G | ENSP00000502467.1:p.Ser28= | |
| ENST00000303660.8:c.2550C>G | ENSP00000302501.4:p.Ser850= | |
| ENST00000409487.7:c.2553C>G | ENSP00000386854.2:p.Ser851= | |
| ENST00000419938.5:c.655+2565C>G | ENSP00000394777.2:n.655+2565C>G | |
| ENST00000440875.5:c.1168-706C>G | ENSP00000475553.2:n.1168-706C>G | |
| ENST00000539609.7:c.2481C>G | ENSP00000443792.2:p.Ser827= | |
| ENST00000558170.6:c.2553C>G | ENSP00000454157.1:p.Ser851= | |
| ENST00000627532.2:c.2553C>G | ENSP00000487174.1:p.Ser851= | |
| NM_001171653.1:c.2481C>G | NP_001165124.1:p.Ser827= | |
| NM_014795.3:c.2553C>G | NP_055610.1:p.Ser851= | |
| XM_006712881.2:c.2553C>G | XP_006712944.1:p.Ser851= | |
| XM_006712882.2:c.2553C>G | XP_006712945.1:p.Ser851= | |
| XM_011512231.1:c.2544C>G | XP_011510533.1:p.Ser848= | |
| XM_011512232.1:c.2532C>G | XP_011510534.1:p.Ser844= | |
| NM_014795.4:c.2553C>G MANE Select | NP_055610.1:p.Ser851= | |
| NM_001171653.2:c.2481C>G | NP_001165124.1:p.Ser827= |