Canonical Allele Identifier: CA384945367

Gene: KRT2

Linked Data

• dbSNP Id: rs1199795984
• gnomAD v2: 12-53045791-G-A
• gnomAD v4: 12-52652007-G-A
• MyVariant Identifiers: chr12:g.53045791G>A (hg19) ; chr12:g.52652007G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52652007G>A , CM000674.2:g.52652007G>A	GRCh38
NC_000012.11:g.53045791G>A , CM000674.1:g.53045791G>A	GRCh37
NC_000012.10:g.51332058G>A	NCBI36
NG_008296.1:g.5169C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309680.4:c.136C>T MANE Select	ENSP00000310861.3:p.His46Tyr
ENST00000309680.3:c.136C>T	ENSP00000310861.3:p.His46Tyr
NM_000423.2:c.136C>T	NP_000414.2:p.His46Tyr
NM_000423.3:c.136C>T MANE Select	NP_000414.2:p.His46Tyr