Canonical Allele Identifier: CA2618946332

Gene: KRT2

Linked Data

• gnomAD v4: 12-52651842-T-TGCCGCCTCCAAAGCCGCTGCCGCCTCCAAAGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52651844_52651845insCGCCTCCAAAGCCGCTGCCGCCTCCAAAGCCGC , CM000674.2:g.52651844_52651845insCGCCTCCAAAGCCGCTGCCGCCTCCAAAGCCGC	GRCh38
NC_000012.11:g.53045628_53045629insCGCCTCCAAAGCCGCTGCCGCCTCCAAAGCCGC , CM000674.1:g.53045628_53045629insCGCCTCCAAAGCCGCTGCCGCCTCCAAAGCCGC	GRCh37
NC_000012.10:g.51331895_51331896insCGCCTCCAAAGCCGCTGCCGCCTCCAAAGCCGC	NCBI36
NG_008296.1:g.5333_5334insGGCTTTGGAGGCGGCAGCGGCTTTGGAGGCGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309680.4:c.300_301insGGCTTTGGAGGCGGCAGCGGCTTTGGAGGCGGC MANE Select	ENSP00000310861.3:p.Ser100_Ser101insGlyPheGlyGlyGlySerGlyPheG...
ENST00000309680.3:c.300_301insGGCTTTGGAGGCGGCAGCGGCTTTGGAGGCGGC	ENSP00000310861.3:p.Ser100_Ser101insGlyPheGlyGlyGlySerGlyPheG...
NM_000423.2:c.300_301insGGCTTTGGAGGCGGCAGCGGCTTTGGAGGCGGC	NP_000414.2:p.Ser100_Ser101insGlyPheGlyGlyGlySerGlyPheGlyGlyG...
NM_000423.3:c.300_301insGGCTTTGGAGGCGGCAGCGGCTTTGGAGGCGGC MANE Select	NP_000414.2:p.Ser100_Ser101insGlyPheGlyGlyGlySerGlyPheGlyGlyG...