Linked Data
dbSNP Id:
rs2030908361
gnomAD v3:
2-189565460-C-T
gnomAD v4:
2-189565460-C-T
MyVariant Identifiers:
chr2:g.190430186C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189565460C>T , CM000664.2:g.189565460C>T | GRCh38 |
| NC_000002.11:g.190430186C>T , CM000664.1:g.190430186C>T | GRCh37 |
| NC_000002.10:g.190138431C>T | NCBI36 |
| NG_009027.1:g.20352G>A , LRG_837:g.20352G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261024.7:c.654G>A MANE Select | ENSP00000261024.3:p.Val218= | |
| ENST00000261024.6:c.654G>A | ENSP00000261024.2:p.Val218= | |
| NM_014585.5:c.654G>A , LRG_837t1:c.654G>A | NP_055400.1:p.Val218= | |
| XM_005246505.1:c.534G>A | XP_005246562.1:p.Val178= | |
| XM_005246505.2:c.534G>A | XP_005246562.1:p.Val178= | |
| XM_017003938.2:c.534G>A | XP_016859427.1:p.Val178= | |
| NM_014585.6:c.654G>A MANE Select | NP_055400.1:p.Val218= |