Canonical Allele Identifier: CA120292

Gene: KRT2

Linked Data

• ClinVar Variation Id: 9311
• ClinVar RCV Id: RCV000009896
• dbSNP Id: rs57510142
• MyVariant Identifiers: chr12:g.53045385T>G (hg19) ; chr12:g.52651601T>G (hg38)
• PubMed: PMID:1380918 ; PMID:8077693

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52651601T>G , CM000674.2:g.52651601T>G	GRCh38
NC_000012.11:g.53045385T>G , CM000674.1:g.53045385T>G	GRCh37
NC_000012.10:g.51331652T>G	NCBI36
NG_008296.1:g.5575A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309680.4:c.542A>C MANE Select	ENSP00000310861.3:p.Gln181Pro
ENST00000309680.3:c.542A>C	ENSP00000310861.3:p.Gln181Pro
NM_000423.2:c.542A>C	NP_000414.2:p.Gln181Pro
NM_000423.3:c.542A>C MANE Select	NP_000414.2:p.Gln181Pro