Canonical Allele Identifier: CA384944651
Gene: KRT2 HGNC NCBI

Linked Data

gnomAD v4: 12-52651914-C-T
MyVariant Identifiers: chr12:g.53045698C>T (hg19) chr12:g.52651914C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52651914C>T , CM000674.2:g.52651914C>T GRCh38
NC_000012.11:g.53045698C>T , CM000674.1:g.53045698C>T GRCh37
NC_000012.10:g.51331965C>T NCBI36
NG_008296.1:g.5262G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000309680.4:c.229G>A MANE Select ENSP00000310861.3:p.Ala77Thr
ENST00000309680.3:c.229G>A ENSP00000310861.3:p.Ala77Thr
NM_000423.2:c.229G>A NP_000414.2:p.Ala77Thr
NM_000423.3:c.229G>A MANE Select NP_000414.2:p.Ala77Thr
Search 100 bp 5'
Search 100 bp 3'