Canonical Allele Identifier: CA480072850
Gene: KRT2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.53045819T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52652035T>A , CM000674.2:g.52652035T>A GRCh38
NC_000012.11:g.53045819T>A , CM000674.1:g.53045819T>A GRCh37
NC_000012.10:g.51332086T>A NCBI36
NG_008296.1:g.5141A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000309680.4:c.108A>T MANE Select ENSP00000310861.3:p.Ser36=
ENST00000309680.3:c.108A>T ENSP00000310861.3:p.Ser36=
NM_000423.2:c.108A>T NP_000414.2:p.Ser36=
NM_000423.3:c.108A>T MANE Select NP_000414.2:p.Ser36=