Canonical Allele Identifier: CA6585984
Gene: KRT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 309630
ClinVar RCV Id: RCV000405109
dbSNP Id: rs779454673

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52652091C>T , CM000674.2:g.52652091C>T GRCh38
NC_000012.11:g.53045875C>T , CM000674.1:g.53045875C>T GRCh37
NC_000012.10:g.51332142C>T NCBI36
NG_008296.1:g.5085G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000309680.4:c.52G>A MANE Select ENSP00000310861.3:p.Gly18Arg
ENST00000309680.3:c.52G>A ENSP00000310861.3:p.Gly18Arg
NM_000423.2:c.52G>A NP_000414.2:p.Gly18Arg
NM_000423.3:c.52G>A MANE Select NP_000414.2:p.Gly18Arg