Canonical Allele Identifier: CA6585518

Gene: KRT2

Linked Data

• ClinVar Variation Id: 309606
• ClinVar RCV Id: RCV000346329 ; RCV003930316
• dbSNP Id: rs753957075
• ExAC: 12:53040721 G / A
• gnomAD v2: 12-53040721-G-A
• gnomAD v3: 12-52646937-G-A
• gnomAD v4: 12-52646937-G-A
• COSMIC: COSM4042902
• MyVariant Identifiers: chr12:g.53040721G>A (hg19) ; chr12:g.52646937G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52646937G>A , CM000674.2:g.52646937G>A	GRCh38
NC_000012.11:g.53040721G>A , CM000674.1:g.53040721G>A	GRCh37
NC_000012.10:g.51326988G>A	NCBI36
NG_008296.1:g.10239C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309680.4:c.1272C>T MANE Select	ENSP00000310861.3:p.Ile424=
ENST00000309680.3:c.1272C>T	ENSP00000310861.3:p.Ile424=
NM_000423.2:c.1272C>T	NP_000414.2:p.Ile424=
NM_000423.3:c.1272C>T MANE Select	NP_000414.2:p.Ile424=