Canonical Allele Identifier: CA237244433
Gene: KRT2 HGNC NCBI

Linked Data

dbSNP Id: rs148049179
gnomAD v4: 12-52651904-C-A
MyVariant Identifiers: chr12:g.53045688C>A (hg19) chr12:g.52651904C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52651904C>A , CM000674.2:g.52651904C>A GRCh38
NC_000012.11:g.53045688C>A , CM000674.1:g.53045688C>A GRCh37
NC_000012.10:g.51331955C>A NCBI36
NG_008296.1:g.5272G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000309680.4:c.239G>T MANE Select ENSP00000310861.3:p.Gly80Val
ENST00000309680.3:c.239G>T ENSP00000310861.3:p.Gly80Val
NM_000423.2:c.239G>T NP_000414.2:p.Gly80Val
NM_000423.3:c.239G>T MANE Select NP_000414.2:p.Gly80Val
Search 100 bp 5'
Search 100 bp 3'