Canonical Allele Identifier: CA384946462
Gene: KRT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52652121T>G , CM000674.2:g.52652121T>G GRCh38
NC_000012.11:g.53045905T>G , CM000674.1:g.53045905T>G GRCh37
NC_000012.10:g.51332172T>G NCBI36
NG_008296.1:g.5055A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000309680.4:c.22A>C MANE Select ENSP00000310861.3:p.Lys8Gln
ENST00000309680.3:c.22A>C ENSP00000310861.3:p.Lys8Gln
NM_000423.2:c.22A>C NP_000414.2:p.Lys8Gln
NM_000423.3:c.22A>C MANE Select NP_000414.2:p.Lys8Gln