Canonical Allele Identifier: CA384945398

Gene: KRT2

Linked Data

• dbSNP Id: rs149447253
• gnomAD v2: 12-53045793-C-A
• gnomAD v4: 12-52652009-C-A
• MyVariant Identifiers: chr12:g.53045793C>A (hg19) ; chr12:g.52652009C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52652009C>A , CM000674.2:g.52652009C>A	GRCh38
NC_000012.11:g.53045793C>A , CM000674.1:g.53045793C>A	GRCh37
NC_000012.10:g.51332060C>A	NCBI36
NG_008296.1:g.5167G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309680.4:c.134G>T MANE Select	ENSP00000310861.3:p.Arg45Leu
ENST00000309680.3:c.134G>T	ENSP00000310861.3:p.Arg45Leu
NM_000423.2:c.134G>T	NP_000414.2:p.Arg45Leu
NM_000423.3:c.134G>T MANE Select	NP_000414.2:p.Arg45Leu