Canonical Allele Identifier: CA6585496

Gene: KRT2

Linked Data

• ClinVar Variation Id: 309602
• ClinVar RCV Id: RCV000294896
• dbSNP Id: rs755662199
• ExAC: 12:53040620 C / T
• gnomAD v2: 12-53040620-C-T
• gnomAD v3: 12-52646836-C-T
• gnomAD v4: 12-52646836-C-T
• COSMIC: COSM5959916
• MyVariant Identifiers: chr12:g.53040620C>T (hg19) ; chr12:g.52646836C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52646836C>T , CM000674.2:g.52646836C>T	GRCh38
NC_000012.11:g.53040620C>T , CM000674.1:g.53040620C>T	GRCh37
NC_000012.10:g.51326887C>T	NCBI36
NG_008296.1:g.10340G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309680.4:c.1373G>A MANE Select	ENSP00000310861.3:p.Arg458Gln
ENST00000309680.3:c.1373G>A	ENSP00000310861.3:p.Arg458Gln
NM_000423.2:c.1373G>A	NP_000414.2:p.Arg458Gln
NM_000423.3:c.1373G>A MANE Select	NP_000414.2:p.Arg458Gln