Canonical Allele Identifier: CA384946705

Gene: KRT2

Linked Data

• dbSNP Id: rs1196644892
• gnomAD v2: 12-53045922-C-G
• gnomAD v4: 12-52652138-C-G
• MyVariant Identifiers: chr12:g.53045922C>G (hg19) ; chr12:g.52652138C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52652138C>G , CM000674.2:g.52652138C>G	GRCh38
NC_000012.11:g.53045922C>G , CM000674.1:g.53045922C>G	GRCh37
NC_000012.10:g.51332189C>G	NCBI36
NG_008296.1:g.5038G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309680.4:c.5G>C MANE Select	ENSP00000310861.3:p.Ser2Thr
ENST00000309680.3:c.5G>C	ENSP00000310861.3:p.Ser2Thr
NM_000423.2:c.5G>C	NP_000414.2:p.Ser2Thr
NM_000423.3:c.5G>C MANE Select	NP_000414.2:p.Ser2Thr