Canonical Allele Identifier: CA6585901

Gene: KRT2

Linked Data

• dbSNP Id: rs751451167
• ExAC: 12:53045633 G / GCCTCCAAAGCCGCTGCCA
• gnomAD v2: 12-53045633-G-GCCTCCAAAGCCGCTGCCA
• gnomAD v3: 12-52651849-G-GCCTCCAAAGCCGCTGCCA
• gnomAD v4: 12-52651849-G-GCCTCCAAAGCCGCTGCCA
• MyVariant Identifiers: chr12:g.53045633_53045634insCCTCCAAAGCCGCTGCCA (hg19) ; chr12:g.52651849_52651850insCCTCCAAAGCCGCTGCCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52651857_52651858insGCCGCTGCCACCTCCAAA , CM000674.2:g.52651857_52651858insGCCGCTGCCACCTCCAAA	GRCh38
NC_000012.11:g.53045641_53045642insGCCGCTGCCACCTCCAAA , CM000674.1:g.53045641_53045642insGCCGCTGCCACCTCCAAA	GRCh37
NC_000012.10:g.51331908_51331909insGCCGCTGCCACCTCCAAA	NCBI36
NG_008296.1:g.5326_5327insTGGCAGCGGCTTTGGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309680.4:c.293_294insTGGCAGCGGCTTTGGAGG MANE Select	ENSP00000310861.3:p.Gly98_Gly99insGlySerGlyPheGlyGly
ENST00000309680.3:c.293_294insTGGCAGCGGCTTTGGAGG	ENSP00000310861.3:p.Gly98_Gly99insGlySerGlyPheGlyGly
NM_000423.2:c.293_294insTGGCAGCGGCTTTGGAGG	NP_000414.2:p.Gly98_Gly99insGlySerGlyPheGlyGly
NM_000423.3:c.293_294insTGGCAGCGGCTTTGGAGG MANE Select	NP_000414.2:p.Gly98_Gly99insGlySerGlyPheGlyGly