Canonical Allele Identifier: CA229198
Gene: KRT82 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.52401340C>G
GRCh37 chr12:g.52795124C>G
Revel Score:
ENST00000257974 (MANE Select) 0.357
ClinVar Allele:
106745
ClinVar RCV:
RCV000087247
ClinVar Variation:
100885
dbSNP:
483352762
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52401340C>G , CM000674.2:g.52401340C>G GRCh38
NC_000012.11:g.52795124C>G , CM000674.1:g.52795124C>G GRCh37
NC_000012.10:g.51081391C>G NCBI36
NG_012298.1:g.10053G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000257974.3:c.630G>C MANE Select ENSP00000257974.3:p.Glu210Asp
ENST00000257974.2:c.630G>C ENSP00000257974.2:p.Glu210Asp
NM_033033.3:c.630G>C NP_149022.3:p.Glu210Asp
NM_033033.4:c.630G>C MANE Select NP_149022.3:p.Glu210Asp
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