Canonical Allele Identifier: CA6585894

Gene: KRT2

Linked Data

• dbSNP Id: rs1555169884
• ExAC: 12:53045627 G / GCCGCCTCCAAAGCCA
• gnomAD v2: 12-53045627-G-GCCGCCTCCAAAGCCA
• gnomAD v4: 12-52651843-G-GCCGCCTCCAAAGCCA
• MyVariant Identifiers: chr12:g.53045627_53045628insCCGCCTCCAAAGCCA (hg19) ; chr12:g.52651843_52651844insCCGCCTCCAAAGCCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52651844_52651845insCGCCTCCAAAGCCAC , CM000674.2:g.52651844_52651845insCGCCTCCAAAGCCAC	GRCh38
NC_000012.11:g.53045628_53045629insCGCCTCCAAAGCCAC , CM000674.1:g.53045628_53045629insCGCCTCCAAAGCCAC	GRCh37
NC_000012.10:g.51331895_51331896insCGCCTCCAAAGCCAC	NCBI36
NG_008296.1:g.5332_5333insTGGCTTTGGAGGCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309680.4:c.299_300insTGGCTTTGGAGGCGG MANE Select	ENSP00000310861.3:p.Ser100_Ser101insGlyPheGlyGlyGly
ENST00000309680.3:c.299_300insTGGCTTTGGAGGCGG	ENSP00000310861.3:p.Ser100_Ser101insGlyPheGlyGlyGly
NM_000423.2:c.299_300insTGGCTTTGGAGGCGG	NP_000414.2:p.Ser100_Ser101insGlyPheGlyGlyGly
NM_000423.3:c.299_300insTGGCTTTGGAGGCGG MANE Select	NP_000414.2:p.Ser100_Ser101insGlyPheGlyGlyGly