Canonical Allele Identifier: CA2618946321
Gene: KRT2 HGNC NCBI

Linked Data

gnomAD v4: 12-52651831-A-ACCTCCAAAGCTGCTGCCG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52651840_52651857dup , CM000674.2:g.52651840_52651857dup GRCh38
NC_000012.11:g.53045624_53045641dup , CM000674.1:g.53045624_53045641dup GRCh37
NC_000012.10:g.51331891_51331908dup NCBI36
NG_008296.1:g.5327_5344dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000309680.4:c.294_311dup MANE Select ENSP00000310861.3:p.Gly104_Gly105insGlySerSerPheGlyGly
ENST00000309680.3:c.294_311dup ENSP00000310861.3:p.Gly104_Gly105insGlySerSerPheGlyGly
NM_000423.2:c.294_311dup NP_000414.2:p.Gly104_Gly105insGlySerSerPheGlyGly
NM_000423.3:c.294_311dup MANE Select NP_000414.2:p.Gly104_Gly105insGlySerSerPheGlyGly
Search 100 bp 5'
Search 100 bp 3'