Canonical Allele Identifier: CA384945426

Gene: KRT2

Linked Data

• MyVariant Identifiers: chr12:g.53045797T>G (hg19) ; chr12:g.52652013T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52652013T>G , CM000674.2:g.52652013T>G	GRCh38
NC_000012.11:g.53045797T>G , CM000674.1:g.53045797T>G	GRCh37
NC_000012.10:g.51332064T>G	NCBI36
NG_008296.1:g.5163A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309680.4:c.130A>C MANE Select	ENSP00000310861.3:p.Ser44Arg
ENST00000309680.3:c.130A>C	ENSP00000310861.3:p.Ser44Arg
NM_000423.2:c.130A>C	NP_000414.2:p.Ser44Arg
NM_000423.3:c.130A>C MANE Select	NP_000414.2:p.Ser44Arg