Canonical Allele Identifier: CA384946547
Gene: KRT2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.53045911A>G (hg19) chr12:g.52652127A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52652127A>G , CM000674.2:g.52652127A>G GRCh38
NC_000012.11:g.53045911A>G , CM000674.1:g.53045911A>G GRCh37
NC_000012.10:g.51332178A>G NCBI36
NG_008296.1:g.5049T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000309680.4:c.16T>C MANE Select ENSP00000310861.3:p.Ser6Pro
ENST00000309680.3:c.16T>C ENSP00000310861.3:p.Ser6Pro
NM_000423.2:c.16T>C NP_000414.2:p.Ser6Pro
NM_000423.3:c.16T>C MANE Select NP_000414.2:p.Ser6Pro
Search 100 bp 5'
Search 100 bp 3'