Canonical Allele Identifier: CA6585893
Gene: KRT2 HGNC NCBI

Linked Data

dbSNP Id: rs760149605
ExAC: 12:53045626 T / TCCAAAGCC
MyVariant Identifiers: chr12:g.53045626_53045627insCCAAAGCC (hg19) chr12:g.52651842_52651843insCCAAAGCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52651842_52651843insCCAAAGCC , CM000674.2:g.52651842_52651843insCCAAAGCC GRCh38
NC_000012.11:g.53045626_53045627insCCAAAGCC , CM000674.1:g.53045626_53045627insCCAAAGCC GRCh37
NC_000012.10:g.51331893_51331894insCCAAAGCC NCBI36
NG_008296.1:g.5333_5334insGGCTTTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000309680.4:c.300_301insGGCTTTGG MANE Select ENSP00000310861.3:p.Ser101GlyfsTer?
ENST00000309680.3:c.300_301insGGCTTTGG ENSP00000310861.3:p.Ser101GlyfsTer?
NM_000423.2:c.300_301insGGCTTTGG NP_000414.2:p.Ser101GlyfsTer?
NM_000423.3:c.300_301insGGCTTTGG MANE Select NP_000414.2:p.Ser101GlyfsTer?
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