Canonical Allele Identifier: CA912980094

Gene: GJB2

Linked Data

• MyVariant Identifiers: chr13:g.20763379dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189241dup , CM000675.2:g.20189241dup	GRCh38
NC_000013.10:g.20763380dup , CM000675.1:g.20763380dup	GRCh37
NC_000013.9:g.19661380dup	NCBI36
NG_008358.1:g.8736dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.342dup	ENSP00000372295.1:p.Phe115IlefsTer2
ENST00000382848.5:c.342dup MANE Select	ENSP00000372299.4:p.Phe115IlefsTer2
ENST00000382844.1:c.342dup	ENSP00000372295.1:p.Phe115IlefsTer2
ENST00000382848.4:c.342dup	ENSP00000372299.4:p.Phe115IlefsTer2
NM_004004.5:c.342dup	NP_003995.2:p.Phe115IlefsTer2
XM_011535049.1:c.342dup	XP_011533351.1:p.Phe115IlefsTer2
XM_011535049.2:c.342dup	XP_011533351.1:p.Phe115IlefsTer2
NM_004004.6:c.342dup MANE Select	NP_003995.2:p.Phe115IlefsTer2