Canonical Allele Identifier: CA120291

Gene: KRT2

Linked Data

• ClinVar Variation Id: 9310
• ClinVar RCV Id: RCV000009895 ; RCV000009894 ; RCV000056532
• dbSNP Id: rs137852629
• gnomAD v4: 12-52646750-C-T
• COSMIC: COSM1362553
• MyVariant Identifiers: chr12:g.53040534C>T (hg19) ; chr12:g.52646750C>T (hg38)
• PubMed: PMID:2004005 ; PMID:7521371 ; PMID:7524919 ; PMID:8077693 ; PMID:10233323

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52646750C>T , CM000674.2:g.52646750C>T	GRCh38
NC_000012.11:g.53040534C>T , CM000674.1:g.53040534C>T	GRCh37
NC_000012.10:g.51326801C>T	NCBI36
NG_008296.1:g.10426G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309680.4:c.1459G>A MANE Select	ENSP00000310861.3:p.Glu487Lys
ENST00000309680.3:c.1459G>A	ENSP00000310861.3:p.Glu487Lys
NM_000423.2:c.1459G>A	NP_000414.2:p.Glu487Lys
NM_000423.3:c.1459G>A MANE Select	NP_000414.2:p.Glu487Lys