Canonical Allele Identifier: CA6585891
Gene: KRT2 HGNC NCBI

Linked Data

dbSNP Id: rs57149265
ExAC: 12:53045626 T / TGCCACCTCCAAAGCC
gnomAD v4: 12-52651842-T-TGCCACCTCCAAAGCC
MyVariant Identifiers: chr12:g.53045626_53045627insGCCACCTCCAAAGCC (hg19) chr12:g.52651842_52651843insGCCACCTCCAAAGCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52651844_52651845insCACCTCCAAAGCCGC , CM000674.2:g.52651844_52651845insCACCTCCAAAGCCGC GRCh38
NC_000012.11:g.53045628_53045629insCACCTCCAAAGCCGC , CM000674.1:g.53045628_53045629insCACCTCCAAAGCCGC GRCh37
NC_000012.10:g.51331895_51331896insCACCTCCAAAGCCGC NCBI36
NG_008296.1:g.5333_5334insGGCTTTGGAGGTGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000309680.4:c.300_301insGGCTTTGGAGGTGGC MANE Select ENSP00000310861.3:p.Ser100_Ser101insGlyPheGlyGlyGly
ENST00000309680.3:c.300_301insGGCTTTGGAGGTGGC ENSP00000310861.3:p.Ser100_Ser101insGlyPheGlyGlyGly
NM_000423.2:c.300_301insGGCTTTGGAGGTGGC NP_000414.2:p.Ser100_Ser101insGlyPheGlyGlyGly
NM_000423.3:c.300_301insGGCTTTGGAGGTGGC MANE Select NP_000414.2:p.Ser100_Ser101insGlyPheGlyGlyGly
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