Canonical Allele Identifier: CA605241216

Gene: KRT2

Linked Data

• dbSNP Id: rs1258752968
• gnomAD v2: 12-53045940-A-G
• gnomAD v4: 12-52652156-A-G
• MyVariant Identifiers: chr12:g.53045940A>G (hg19) ; chr12:g.52652156A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52652156A>G , CM000674.2:g.52652156A>G	GRCh38
NC_000012.11:g.53045940A>G , CM000674.1:g.53045940A>G	GRCh37
NC_000012.10:g.51332207A>G	NCBI36
NG_008296.1:g.5020T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309680.4:c.-14T>C MANE Select	ENSP00000310861.3:n.-14T>C
ENST00000309680.3:c.-14T>C	ENSP00000310861.3:n.-14T>C
NM_000423.2:c.-14T>C	NP_000414.2:n.-14T>C
NM_000423.3:c.-14T>C MANE Select	NP_000414.2:n.-14T>C