Linked Data
ClinVar Variation Id:
1099514
ClinVar RCV Id:
RCV001421828
dbSNP Id:
rs1944679304
gnomAD v4:
2-218893238-C-T
MyVariant Identifiers:
chr2:g.219757960C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218893238C>T , CM000664.2:g.218893238C>T | GRCh38 |
| NC_000002.11:g.219757960C>T , CM000664.1:g.219757960C>T | GRCh37 |
| NC_000002.10:g.219466204C>T | NCBI36 |
| NG_012179.1:g.17706C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.1221C>T MANE Select | ENSP00000258411.3:p.Cys407= | |
| ENST00000258411.7:c.1221C>T | ENSP00000258411.3:p.Cys407= | |
| ENST00000489887.1:n.18C>T | ||
| NM_025216.2:c.1221C>T | NP_079492.2:p.Cys407= | |
| XM_011511928.1:c.1170C>T | XP_011510230.1:p.Cys390= | |
| XM_011511929.1:c.1125C>T | XP_011510231.1:p.Cys375= | |
| XM_011511930.1:c.841C>T | XP_011510232.1:p.Pro281Ser | |
| XM_011511929.2:c.1125C>T | XP_011510231.1:p.Cys375= | |
| NM_025216.3:c.1221C>T MANE Select | NP_079492.2:p.Cys407= |