Canonical Allele Identifier: CA608984141

Gene: GJB2

Linked Data

• dbSNP Id: rs1443108539
• gnomAD v2: 13-20763125-G-GA
• gnomAD v4: 13-20188986-G-GA
• MyVariant Identifiers: chr13:g.20763125_20763126insA (hg19) ; chr13:g.20188986_20188987insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20188987dup , CM000675.2:g.20188987dup	GRCh38
NC_000013.10:g.20763126dup , CM000675.1:g.20763126dup	GRCh37
NC_000013.9:g.19661126dup	NCBI36
NG_008358.1:g.8989dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.595dup	ENSP00000372295.1:p.Ser199PhefsTer11
ENST00000382848.5:c.595dup MANE Select	ENSP00000372299.4:p.Ser199PhefsTer11
ENST00000382844.1:c.595dup	ENSP00000372295.1:p.Ser199PhefsTer11
ENST00000382848.4:c.595dup	ENSP00000372299.4:p.Ser199PhefsTer11
NM_004004.5:c.595dup	NP_003995.2:p.Ser199PhefsTer11
XM_011535049.1:c.595dup	XP_011533351.1:p.Ser199PhefsTer11
XM_011535049.2:c.595dup	XP_011533351.1:p.Ser199PhefsTer11
NM_004004.6:c.595dup MANE Select	NP_003995.2:p.Ser199PhefsTer11