Linked Data
dbSNP Id:
rs2106197381
gnomAD v4:
2-224503778-G-T
MyVariant Identifiers:
chr2:g.225368495G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.224503778G>T , CM000664.2:g.224503778G>T | GRCh38 |
| NC_000002.11:g.225368495G>T , CM000664.1:g.225368495G>T | GRCh37 |
| NC_000002.10:g.225076739G>T | NCBI36 |
| NG_032169.1:g.86620C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264414.9:c.1251C>A MANE Select | ENSP00000264414.4:p.Val417= | |
| ENST00000264414.8:c.1251C>A | ENSP00000264414.4:p.Val417= | |
| ENST00000344951.8:c.1053C>A | ENSP00000343601.4:p.Val351= | |
| ENST00000409096.5:c.1179C>A | ENSP00000387200.1:p.Val393= | |
| ENST00000409777.5:c.1179C>A | ENSP00000386525.1:p.Val393= | |
| ENST00000481135.1:n.547C>A | ||
| ENST00000617432.4:c.-26C>A | ENSP00000477851.1:n.-26C>A | |
| NM_001257197.1:c.1053C>A | NP_001244126.1:p.Val351= | |
| NM_001257198.1:c.1269C>A | NP_001244127.1:p.Val423= | |
| NM_003590.4:c.1251C>A | NP_003581.1:p.Val417= | |
| XM_006712800.2:c.1218C>A | XP_006712863.2:p.Val406= | |
| XM_011511994.1:c.1104C>A | XP_011510296.1:p.Val368= | |
| XM_011511995.1:c.1209C>A | XP_011510297.1:p.Val403= | |
| XM_011511996.1:c.1059C>A | XP_011510298.1:p.Val353= | |
| XM_011511997.1:c.951C>A | XP_011510299.1:p.Val317= | |
| XM_011511994.3:c.1104C>A | XP_011510296.1:p.Val368= | |
| XM_011511996.2:c.1059C>A | XP_011510298.1:p.Val353= | |
| NM_003590.5:c.1251C>A MANE Select | NP_003581.1:p.Val417= | |
| NM_001257198.2:c.1269C>A | NP_001244127.1:p.Val423= | |
| NM_001257197.2:c.1053C>A | NP_001244126.1:p.Val351= |