Canonical Allele Identifier: CA384945413
Gene: KRT2 HGNC NCBI

Linked Data

dbSNP Id: rs372684240
gnomAD v2: 12-53045795-G-T
gnomAD v4: 12-52652011-G-T
MyVariant Identifiers: chr12:g.53045795G>T (hg19) chr12:g.52652011G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52652011G>T , CM000674.2:g.52652011G>T GRCh38
NC_000012.11:g.53045795G>T , CM000674.1:g.53045795G>T GRCh37
NC_000012.10:g.51332062G>T NCBI36
NG_008296.1:g.5165C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000309680.4:c.132C>A MANE Select ENSP00000310861.3:p.Ser44Arg
ENST00000309680.3:c.132C>A ENSP00000310861.3:p.Ser44Arg
NM_000423.2:c.132C>A NP_000414.2:p.Ser44Arg
NM_000423.3:c.132C>A MANE Select NP_000414.2:p.Ser44Arg
Search 100 bp 5'
Search 100 bp 3'