Linked Data
dbSNP Id:
rs1945328887
gnomAD v4:
2-201209557-C-A
MyVariant Identifiers:
chr2:g.202074280C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201209557C>A , CM000664.2:g.201209557C>A | GRCh38 |
| NC_000002.11:g.202074280C>A , CM000664.1:g.202074280C>A | GRCh37 |
| NC_000002.10:g.201782525C>A | NCBI36 |
| NG_007265.1:g.31426C>A , LRG_33:g.31426C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313728.12:c.1209C>A | ENSP00000314599.7:p.Val403= | |
| ENST00000346817.10:c.1281C>A | ENSP00000237865.7:p.Val427= | |
| ENST00000438843.6:c.*867C>A | ENSP00000401914.1:n.*867C>A | |
| ENST00000492363.6:c.*496C>A | ENSP00000512459.1:n.*496C>A | |
| ENST00000696199.1:c.721+5791C>A | ENSP00000512481.1:n.721+5791C>A | |
| ENST00000286186.11:c.1410C>A MANE Select | ENSP00000286186.6:p.Val470= | |
| ENST00000272879.9:c.1410C>A | ENSP00000272879.5:p.Val470= | |
| ENST00000286186.10:c.1410C>A | ENSP00000286186.6:p.Val470= | |
| ENST00000313728.11:c.1209C>A | ENSP00000314599.7:p.Val403= | |
| ENST00000346817.9:c.1281C>A | ENSP00000237865.7:p.Val427= | |
| ENST00000360132.7:c.*496C>A | ENSP00000353250.3:n.*496C>A | |
| ENST00000448480.1:c.1281C>A | ENSP00000396835.1:p.Val427= | |
| ENST00000492363.5:n.1318C>A | ||
| NM_001206524.1:c.1209C>A | NP_001193453.1:p.Val403= | |
| NM_001206542.1:c.1281C>A | NP_001193471.1:p.Val427= | |
| NM_001230.4:c.1281C>A | NP_001221.2:p.Val427= | |
| NM_032974.4:c.1410C>A | NP_116756.2:p.Val470= | |
| NM_032976.3:c.*496C>A | NP_116758.1:n.*496C>A | |
| NM_032977.3:c.1410C>A , LRG_33t1:c.1410C>A | NP_116759.2:p.Val470= | |
| XM_005246907.2:c.1407C>A | XP_005246964.1:p.Val469= | |
| XM_006712796.2:c.660C>A | XP_006712859.1:p.Val220= | |
| XM_006712796.3:c.660C>A | XP_006712859.1:p.Val220= | |
| NM_001206524.2:c.1209C>A | NP_001193453.1:p.Val403= | |
| NM_001206542.2:c.1281C>A | NP_001193471.1:p.Val427= | |
| NM_001230.5:c.1281C>A | NP_001221.2:p.Val427= | |
| NM_032974.5:c.1410C>A | NP_116756.2:p.Val470= | |
| NM_032977.4:c.1410C>A MANE Select | NP_116759.2:p.Val470= | |
| NM_032976.4:c.*496C>A | NP_116758.1:n.*496C>A |