Canonical Allele Identifier: CA6585987
Gene: KRT2 HGNC NCBI

Linked Data

dbSNP Id: rs746317514
ExAC: 12:53045897 TC / T
gnomAD v2: 12-53045897-TC-T
gnomAD v3: 12-52652113-TC-T
gnomAD v4: 12-52652113-TC-T
MyVariant Identifiers: chr12:g.53045898del (hg19) chr12:g.52652114del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52652114del , CM000674.2:g.52652114del GRCh38
NC_000012.11:g.53045898del , CM000674.1:g.53045898del GRCh37
NC_000012.10:g.51332165del NCBI36
NG_008296.1:g.5062del

Transcript Alleles

HGVS Amino-acid Change
ENST00000309680.4:c.29del MANE Select ENSP00000310861.3:p.Arg10GlnfsTer?
ENST00000309680.3:c.29del ENSP00000310861.3:p.Arg10GlnfsTer?
NM_000423.2:c.29del NP_000414.2:p.Arg10GlnfsTer?
NM_000423.3:c.29del MANE Select NP_000414.2:p.Arg10GlnfsTer?
Search 100 bp 5'
Search 100 bp 3'