Canonical Allele Identifier: CA384944905
Gene: KRT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52651947G>C , CM000674.2:g.52651947G>C GRCh38
NC_000012.11:g.53045731G>C , CM000674.1:g.53045731G>C GRCh37
NC_000012.10:g.51331998G>C NCBI36
NG_008296.1:g.5229C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000309680.4:c.196C>G MANE Select ENSP00000310861.3:p.Leu66Val
ENST00000309680.3:c.196C>G ENSP00000310861.3:p.Leu66Val
NM_000423.2:c.196C>G NP_000414.2:p.Leu66Val
NM_000423.3:c.196C>G MANE Select NP_000414.2:p.Leu66Val