Canonical Allele Identifier: CA120293

Gene: KRT2

Linked Data

• ClinVar Variation Id: 9312
• ClinVar RCV Id: RCV000009897 ; RCV000056529
• dbSNP Id: rs137852630
• MyVariant Identifiers: chr12:g.53040558T>G (hg19) ; chr12:g.52646774T>G (hg38)
• PubMed: PMID:9204966

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52646774T>G , CM000674.2:g.52646774T>G	GRCh38
NC_000012.11:g.53040558T>G , CM000674.1:g.53040558T>G	GRCh37
NC_000012.10:g.51326825T>G	NCBI36
NG_008296.1:g.10402A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309680.4:c.1435A>C MANE Select	ENSP00000310861.3:p.Thr479Pro
ENST00000309680.3:c.1435A>C	ENSP00000310861.3:p.Thr479Pro
NM_000423.2:c.1435A>C	NP_000414.2:p.Thr479Pro
NM_000423.3:c.1435A>C MANE Select	NP_000414.2:p.Thr479Pro