Canonical Allele Identifier: CA384944488
Gene: KRT2 HGNC NCBI

Linked Data

gnomAD v4: 12-52651896-A-T
MyVariant Identifiers: chr12:g.53045680A>T (hg19) chr12:g.52651896A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52651896A>T , CM000674.2:g.52651896A>T GRCh38
NC_000012.11:g.53045680A>T , CM000674.1:g.53045680A>T GRCh37
NC_000012.10:g.51331947A>T NCBI36
NG_008296.1:g.5280T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000309680.4:c.247T>A MANE Select ENSP00000310861.3:p.Phe83Ile
ENST00000309680.3:c.247T>A ENSP00000310861.3:p.Phe83Ile
NM_000423.2:c.247T>A NP_000414.2:p.Phe83Ile
NM_000423.3:c.247T>A MANE Select NP_000414.2:p.Phe83Ile
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Search 100 bp 3'