Canonical Allele Identifier: CA608984142

Gene: GJB2

Linked Data

• dbSNP Id: rs1285756358
• gnomAD v2: 13-20763129-C-CTG
• gnomAD v4: 13-20188990-C-CTG
• MyVariant Identifiers: chr13:g.20763129_20763130insTG (hg19) ; chr13:g.20188990_20188991insTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20188991_20188992dup , CM000675.2:g.20188991_20188992dup	GRCh38
NC_000013.10:g.20763130_20763131dup , CM000675.1:g.20763130_20763131dup	GRCh37
NC_000013.9:g.19661130_19661131dup	NCBI36
NG_008358.1:g.8984_8985dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.590_591dup	ENSP00000372295.1:p.Val198GlnfsTer9
ENST00000382848.5:c.590_591dup MANE Select	ENSP00000372299.4:p.Val198GlnfsTer9
ENST00000382844.1:c.590_591dup	ENSP00000372295.1:p.Val198GlnfsTer9
ENST00000382848.4:c.590_591dup	ENSP00000372299.4:p.Val198GlnfsTer9
NM_004004.5:c.590_591dup	NP_003995.2:p.Val198GlnfsTer9
XM_011535049.1:c.590_591dup	XP_011533351.1:p.Val198GlnfsTer9
XM_011535049.2:c.590_591dup	XP_011533351.1:p.Val198GlnfsTer9
NM_004004.6:c.590_591dup MANE Select	NP_003995.2:p.Val198GlnfsTer9