Canonical Allele Identifier: CA6585455

Gene: KRT2

Linked Data

• ClinVar Variation Id: 309601
• ClinVar RCV Id: RCV000386850 ; RCV002520822
• dbSNP Id: rs374913826
• ExAC: 12:53039345 C / A
• gnomAD v2: 12-53039345-C-A
• gnomAD v3: 12-52645561-C-A
• gnomAD v4: 12-52645561-C-A
• MyVariant Identifiers: chr12:g.53039345C>A (hg19) ; chr12:g.52645561C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52645561C>A , CM000674.2:g.52645561C>A	GRCh38
NC_000012.11:g.53039345C>A , CM000674.1:g.53039345C>A	GRCh37
NC_000012.10:g.51325612C>A	NCBI36
NG_008296.1:g.11615G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309680.4:c.1478G>T MANE Select	ENSP00000310861.3:p.Gly493Val
ENST00000309680.3:c.1478G>T	ENSP00000310861.3:p.Gly493Val
NM_000423.2:c.1478G>T	NP_000414.2:p.Gly493Val
NM_000423.3:c.1478G>T MANE Select	NP_000414.2:p.Gly493Val