Canonical Allele Identifier: CA6585889

Gene: KRT2

Linked Data

• dbSNP Id: rs57149265
• ExAC: 12:53045626 T / TGCCGCCTCCAAAGCC
• gnomAD v2: 12-53045626-T-TGCCGCCTCCAAAGCC
• gnomAD v3: 12-52651842-T-TGCCGCCTCCAAAGCC
• gnomAD v4: 12-52651842-T-TGCCGCCTCCAAAGCC
• MyVariant Identifiers: chr12:g.53045626_53045627insGCCGCCTCCAAAGCC (hg19) ; chr12:g.52651842_52651843insGCCGCCTCCAAAGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52651844_52651845insCGCCTCCAAAGCCGC , CM000674.2:g.52651844_52651845insCGCCTCCAAAGCCGC	GRCh38
NC_000012.11:g.53045628_53045629insCGCCTCCAAAGCCGC , CM000674.1:g.53045628_53045629insCGCCTCCAAAGCCGC	GRCh37
NC_000012.10:g.51331895_51331896insCGCCTCCAAAGCCGC	NCBI36
NG_008296.1:g.5333_5334insGGCTTTGGAGGCGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309680.4:c.300_301insGGCTTTGGAGGCGGC MANE Select	ENSP00000310861.3:p.Ser100_Ser101insGlyPheGlyGlyGly
ENST00000309680.3:c.300_301insGGCTTTGGAGGCGGC	ENSP00000310861.3:p.Ser100_Ser101insGlyPheGlyGlyGly
NM_000423.2:c.300_301insGGCTTTGGAGGCGGC	NP_000414.2:p.Ser100_Ser101insGlyPheGlyGlyGly
NM_000423.3:c.300_301insGGCTTTGGAGGCGGC MANE Select	NP_000414.2:p.Ser100_Ser101insGlyPheGlyGlyGly