Canonical Allele Identifier: CA6585819

Gene: KRT2

Linked Data

• ClinVar Variation Id: 309618
• ClinVar RCV Id: RCV000370371 ; RCV000434387
• dbSNP Id: rs202243677
• ExAC: 12:53045391 C / T
• gnomAD v2: 12-53045391-C-T
• gnomAD v3: 12-52651607-C-T
• gnomAD v4: 12-52651607-C-T
• MyVariant Identifiers: chr12:g.53045391C>T (hg19) ; chr12:g.52651607C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52651607C>T , CM000674.2:g.52651607C>T	GRCh38
NC_000012.11:g.53045391C>T , CM000674.1:g.53045391C>T	GRCh37
NC_000012.10:g.51331658C>T	NCBI36
NG_008296.1:g.5569G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309680.4:c.536G>A MANE Select	ENSP00000310861.3:p.Arg179His
ENST00000309680.3:c.536G>A	ENSP00000310861.3:p.Arg179His
NM_000423.2:c.536G>A	NP_000414.2:p.Arg179His
NM_000423.3:c.536G>A MANE Select	NP_000414.2:p.Arg179His