Canonical Allele Identifier: CA6585890

Gene: KRT2

Linked Data

• dbSNP Id: rs1555169882
• ExAC: 12:53045626 T / TGCTGCCGCCTCCAAAGCC
• gnomAD v2: 12-53045626-T-TGCTGCCGCCTCCAAAGCC
• gnomAD v3: 12-52651842-T-TGCTGCCGCCTCCAAAGCC
• gnomAD v4: 12-52651842-T-TGCTGCCGCCTCCAAAGCC
• COSMIC: COSM1362559 ; COSM1362560 ; COSM1362561 ; COSM5827224
• MyVariant Identifiers: chr12:g.53045626_53045627insGCTGCCGCCTCCAAAGCC (hg19) ; chr12:g.52651842_52651843insGCTGCCGCCTCCAAAGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52651857_52651858insGCCGCTGCCGCCTCCAAA , CM000674.2:g.52651857_52651858insGCCGCTGCCGCCTCCAAA	GRCh38
NC_000012.11:g.53045641_53045642insGCCGCTGCCGCCTCCAAA , CM000674.1:g.53045641_53045642insGCCGCTGCCGCCTCCAAA	GRCh37
NC_000012.10:g.51331908_51331909insGCCGCTGCCGCCTCCAAA	NCBI36
NG_008296.1:g.5333_5334insGGCTTTGGAGGCGGCAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309680.4:c.300_301insGGCTTTGGAGGCGGCAGC MANE Select	ENSP00000310861.3:p.Ser100_Ser101insGlyPheGlyGlyGlySer
ENST00000309680.3:c.300_301insGGCTTTGGAGGCGGCAGC	ENSP00000310861.3:p.Ser100_Ser101insGlyPheGlyGlyGlySer
NM_000423.2:c.300_301insGGCTTTGGAGGCGGCAGC	NP_000414.2:p.Ser100_Ser101insGlyPheGlyGlyGlySer
NM_000423.3:c.300_301insGGCTTTGGAGGCGGCAGC MANE Select	NP_000414.2:p.Ser100_Ser101insGlyPheGlyGlyGlySer