Canonical Allele Identifier: CA237244560

Gene: KRT2

Linked Data

• dbSNP Id: rs749739311
• gnomAD v3: 12-52651983-C-G
• gnomAD v4: 12-52651983-C-G
• MyVariant Identifiers: chr12:g.53045767C>G (hg19) ; chr12:g.52651983C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52651983C>G , CM000674.2:g.52651983C>G	GRCh38
NC_000012.11:g.53045767C>G , CM000674.1:g.53045767C>G	GRCh37
NC_000012.10:g.51332034C>G	NCBI36
NG_008296.1:g.5193G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309680.4:c.160G>C MANE Select	ENSP00000310861.3:p.Gly54Arg
ENST00000309680.3:c.160G>C	ENSP00000310861.3:p.Gly54Arg
NM_000423.2:c.160G>C	NP_000414.2:p.Gly54Arg
NM_000423.3:c.160G>C MANE Select	NP_000414.2:p.Gly54Arg