Canonical Allele Identifier: CA384946448
Gene: KRT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52652120T>G , CM000674.2:g.52652120T>G GRCh38
NC_000012.11:g.53045904T>G , CM000674.1:g.53045904T>G GRCh37
NC_000012.10:g.51332171T>G NCBI36
NG_008296.1:g.5056A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000309680.4:c.23A>C MANE Select ENSP00000310861.3:p.Lys8Thr
ENST00000309680.3:c.23A>C ENSP00000310861.3:p.Lys8Thr
NM_000423.2:c.23A>C NP_000414.2:p.Lys8Thr
NM_000423.3:c.23A>C MANE Select NP_000414.2:p.Lys8Thr