Canonical Allele Identifier: CA384944719
Gene: KRT2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.53045707T>A (hg19) chr12:g.52651923T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52651923T>A , CM000674.2:g.52651923T>A GRCh38
NC_000012.11:g.53045707T>A , CM000674.1:g.53045707T>A GRCh37
NC_000012.10:g.51331974T>A NCBI36
NG_008296.1:g.5253A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000309680.4:c.220A>T MANE Select ENSP00000310861.3:p.Ile74Phe
ENST00000309680.3:c.220A>T ENSP00000310861.3:p.Ile74Phe
NM_000423.2:c.220A>T NP_000414.2:p.Ile74Phe
NM_000423.3:c.220A>T MANE Select NP_000414.2:p.Ile74Phe
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