Canonical Allele Identifier: CA6585944

Gene: KRT2

Linked Data

• ClinVar Variation Id: 309625
• ClinVar RCV Id: RCV000286054 ; RCV000950218 ; RCV003920286
• dbSNP Id: rs637247
• ExAC: 12:53045759 G / A
• gnomAD v2: 12-53045759-G-A
• gnomAD v3: 12-52651975-G-A
• gnomAD v4: 12-52651975-G-A
• MyVariant Identifiers: chr12:g.53045759G>A (hg19) ; chr12:g.52651975G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52651975G>A , CM000674.2:g.52651975G>A	GRCh38
NC_000012.11:g.53045759G>A , CM000674.1:g.53045759G>A	GRCh37
NC_000012.10:g.51332026G>A	NCBI36
NG_008296.1:g.5201C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309680.4:c.168C>T MANE Select	ENSP00000310861.3:p.Gly56=
ENST00000309680.3:c.168C>T	ENSP00000310861.3:p.Gly56=
NM_000423.2:c.168C>T	NP_000414.2:p.Gly56=
NM_000423.3:c.168C>T MANE Select	NP_000414.2:p.Gly56=