Canonical Allele Identifier: CA480073209
Gene: KRT2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.53045786A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52652002A>C , CM000674.2:g.52652002A>C GRCh38
NC_000012.11:g.53045786A>C , CM000674.1:g.53045786A>C GRCh37
NC_000012.10:g.51332053A>C NCBI36
NG_008296.1:g.5174T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000309680.4:c.141T>G MANE Select ENSP00000310861.3:p.Gly47=
ENST00000309680.3:c.141T>G ENSP00000310861.3:p.Gly47=
NM_000423.2:c.141T>G NP_000414.2:p.Gly47=
NM_000423.3:c.141T>G MANE Select NP_000414.2:p.Gly47=