Canonical Allele Identifier: CA689873272
Gene: KRT2 HGNC NCBI

Linked Data

dbSNP Id: rs749927592
MyVariant Identifiers: chr12:g.53045627_53045628insCTGCCGCCTCCAAAGCCA (hg19) chr12:g.52651843_52651844insCTGCCGCCTCCAAAGCCA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52651857_52651858insGCCACTGCCGCCTCCAAA , CM000674.2:g.52651857_52651858insGCCACTGCCGCCTCCAAA GRCh38
NC_000012.11:g.53045641_53045642insGCCACTGCCGCCTCCAAA , CM000674.1:g.53045641_53045642insGCCACTGCCGCCTCCAAA GRCh37
NC_000012.10:g.51331908_51331909insGCCACTGCCGCCTCCAAA NCBI36
NG_008296.1:g.5332_5333insTGGCTTTGGAGGCGGCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000309680.4:c.299_300insTGGCTTTGGAGGCGGCAG MANE Select ENSP00000310861.3:p.Ser100_Ser101insGlyPheGlyGlyGlySer
ENST00000309680.3:c.299_300insTGGCTTTGGAGGCGGCAG ENSP00000310861.3:p.Ser100_Ser101insGlyPheGlyGlyGlySer
NM_000423.2:c.299_300insTGGCTTTGGAGGCGGCAG NP_000414.2:p.Ser100_Ser101insGlyPheGlyGlyGlySer
NM_000423.3:c.299_300insTGGCTTTGGAGGCGGCAG MANE Select NP_000414.2:p.Ser100_Ser101insGlyPheGlyGlyGlySer
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