Canonical Allele Identifier: CA6585977
Gene: KRT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2056113
ClinVar RCV Id: RCV002947417
dbSNP Id: rs375338538
ExAC: 12:53045855 G / A
gnomAD v2: 12-53045855-G-A
gnomAD v3: 12-52652071-G-A
gnomAD v4: 12-52652071-G-A
MyVariant Identifiers: chr12:g.53045855G>A (hg19) chr12:g.52652071G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52652071G>A , CM000674.2:g.52652071G>A GRCh38
NC_000012.11:g.53045855G>A , CM000674.1:g.53045855G>A GRCh37
NC_000012.10:g.51332122G>A NCBI36
NG_008296.1:g.5105C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000309680.4:c.72C>T MANE Select ENSP00000310861.3:p.Ser24=
ENST00000309680.3:c.72C>T ENSP00000310861.3:p.Ser24=
NM_000423.2:c.72C>T NP_000414.2:p.Ser24=
NM_000423.3:c.72C>T MANE Select NP_000414.2:p.Ser24=
Search 100 bp 5'
Search 100 bp 3'