Canonical Allele Identifier: CA384946510
Gene: KRT2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.53045910G>A (hg19) chr12:g.52652126G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52652126G>A , CM000674.2:g.52652126G>A GRCh38
NC_000012.11:g.53045910G>A , CM000674.1:g.53045910G>A GRCh37
NC_000012.10:g.51332177G>A NCBI36
NG_008296.1:g.5050C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000309680.4:c.17C>T MANE Select ENSP00000310861.3:p.Ser6Phe
ENST00000309680.3:c.17C>T ENSP00000310861.3:p.Ser6Phe
NM_000423.2:c.17C>T NP_000414.2:p.Ser6Phe
NM_000423.3:c.17C>T MANE Select NP_000414.2:p.Ser6Phe
Search 100 bp 5'
Search 100 bp 3'