Canonical Allele Identifier: CA6585621

Gene: KRT2

Linked Data

• ClinVar Variation Id: 309610
• ClinVar RCV Id: RCV000403358
• dbSNP Id: rs751634621
• ExAC: 12:53042028 C / T
• gnomAD v2: 12-53042028-C-T
• gnomAD v3: 12-52648244-C-T
• gnomAD v4: 12-52648244-C-T
• COSMIC: COSM4520298
• MyVariant Identifiers: chr12:g.53042028C>T (hg19) ; chr12:g.52648244C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52648244C>T , CM000674.2:g.52648244C>T	GRCh38
NC_000012.11:g.53042028C>T , CM000674.1:g.53042028C>T	GRCh37
NC_000012.10:g.51328295C>T	NCBI36
NG_008296.1:g.8932G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309680.4:c.1051G>A MANE Select	ENSP00000310861.3:p.Glu351Lys
ENST00000309680.3:c.1051G>A	ENSP00000310861.3:p.Glu351Lys
ENST00000547106.1:n.585G>A
NM_000423.2:c.1051G>A	NP_000414.2:p.Glu351Lys
NM_000423.3:c.1051G>A MANE Select	NP_000414.2:p.Glu351Lys