Canonical Allele Identifier: CA6585967

Gene: KRT2

Linked Data

• dbSNP Id: rs779176929
• ExAC: 12:53045824 T / C
• gnomAD v4: 12-52652040-T-C
• MyVariant Identifiers: chr12:g.53045824T>C (hg19) ; chr12:g.52652040T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52652040T>C , CM000674.2:g.52652040T>C	GRCh38
NC_000012.11:g.53045824T>C , CM000674.1:g.53045824T>C	GRCh37
NC_000012.10:g.51332091T>C	NCBI36
NG_008296.1:g.5136A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309680.4:c.103A>G MANE Select	ENSP00000310861.3:p.Arg35Gly
ENST00000309680.3:c.103A>G	ENSP00000310861.3:p.Arg35Gly
NM_000423.2:c.103A>G	NP_000414.2:p.Arg35Gly
NM_000423.3:c.103A>G MANE Select	NP_000414.2:p.Arg35Gly