Canonical Allele Identifier: CA2618946330
Gene: KRT2 HGNC NCBI

Linked Data

gnomAD v4: 12-52651842-T-TGCCGCCTTCAAAGCC
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52651844_52651845insCGCCTTCAAAGCCGC , CM000674.2:g.52651844_52651845insCGCCTTCAAAGCCGC GRCh38
NC_000012.11:g.53045628_53045629insCGCCTTCAAAGCCGC , CM000674.1:g.53045628_53045629insCGCCTTCAAAGCCGC GRCh37
NC_000012.10:g.51331895_51331896insCGCCTTCAAAGCCGC NCBI36
NG_008296.1:g.5333_5334insGGCTTTGAAGGCGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000309680.4:c.300_301insGGCTTTGAAGGCGGC MANE Select ENSP00000310861.3:p.Ser100_Ser101insGlyPheGluGlyGly
ENST00000309680.3:c.300_301insGGCTTTGAAGGCGGC ENSP00000310861.3:p.Ser100_Ser101insGlyPheGluGlyGly
NM_000423.2:c.300_301insGGCTTTGAAGGCGGC NP_000414.2:p.Ser100_Ser101insGlyPheGluGlyGly
NM_000423.3:c.300_301insGGCTTTGAAGGCGGC MANE Select NP_000414.2:p.Ser100_Ser101insGlyPheGluGlyGly
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