Canonical Allele Identifier: CA384946420

Gene: KRT2

Linked Data

• gnomAD v4: 12-52652118-A-G
• MyVariant Identifiers: chr12:g.53045902A>G (hg19) ; chr12:g.52652118A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52652118A>G , CM000674.2:g.52652118A>G	GRCh38
NC_000012.11:g.53045902A>G , CM000674.1:g.53045902A>G	GRCh37
NC_000012.10:g.51332169A>G	NCBI36
NG_008296.1:g.5058T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309680.4:c.25T>C MANE Select	ENSP00000310861.3:p.Ser9Pro
ENST00000309680.3:c.25T>C	ENSP00000310861.3:p.Ser9Pro
NM_000423.2:c.25T>C	NP_000414.2:p.Ser9Pro
NM_000423.3:c.25T>C MANE Select	NP_000414.2:p.Ser9Pro