Canonical Allele Identifier: CA6585892

Gene: KRT2

Linked Data

• dbSNP Id: rs57149265
• ExAC: 12:53045626 T / TGCCGCCTCCAAAGTC
• gnomAD v4: 12-52651842-T-TGCCGCCTCCAAAGTC
• MyVariant Identifiers: chr12:g.53045626_53045627insGCCGCCTCCAAAGTC (hg19) ; chr12:g.52651842_52651843insGCCGCCTCCAAAGTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52651844_52651845insCGCCTCCAAAGTCGC , CM000674.2:g.52651844_52651845insCGCCTCCAAAGTCGC	GRCh38
NC_000012.11:g.53045628_53045629insCGCCTCCAAAGTCGC , CM000674.1:g.53045628_53045629insCGCCTCCAAAGTCGC	GRCh37
NC_000012.10:g.51331895_51331896insCGCCTCCAAAGTCGC	NCBI36
NG_008296.1:g.5333_5334insGACTTTGGAGGCGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309680.4:c.300_301insGACTTTGGAGGCGGC MANE Select	ENSP00000310861.3:p.Ser100_Ser101insAspPheGlyGlyGly
ENST00000309680.3:c.300_301insGACTTTGGAGGCGGC	ENSP00000310861.3:p.Ser100_Ser101insAspPheGlyGlyGly
NM_000423.2:c.300_301insGACTTTGGAGGCGGC	NP_000414.2:p.Ser100_Ser101insAspPheGlyGlyGly
NM_000423.3:c.300_301insGACTTTGGAGGCGGC MANE Select	NP_000414.2:p.Ser100_Ser101insAspPheGlyGlyGly