Canonical Allele Identifier: CA6585976

Gene: KRT2

Linked Data

• ClinVar Variation Id: 2377370
• ClinVar RCV Id: RCV002670490
• dbSNP Id: rs370724968
• ExAC: 12:53045854 C / T
• gnomAD v2: 12-53045854-C-T
• gnomAD v3: 12-52652070-C-T
• gnomAD v4: 12-52652070-C-T
• COSMIC: COSM1737275
• MyVariant Identifiers: chr12:g.53045854C>T (hg19) ; chr12:g.52652070C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52652070C>T , CM000674.2:g.52652070C>T	GRCh38
NC_000012.11:g.53045854C>T , CM000674.1:g.53045854C>T	GRCh37
NC_000012.10:g.51332121C>T	NCBI36
NG_008296.1:g.5106G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309680.4:c.73G>A MANE Select	ENSP00000310861.3:p.Gly25Ser
ENST00000309680.3:c.73G>A	ENSP00000310861.3:p.Gly25Ser
NM_000423.2:c.73G>A	NP_000414.2:p.Gly25Ser
NM_000423.3:c.73G>A MANE Select	NP_000414.2:p.Gly25Ser