Canonical Allele Identifier: CA6904337

Gene: GJB2

Linked Data

• ClinVar Variation Id: 883513
• ClinVar RCV Id: RCV001113999 ; RCV001114000 ; RCV001114001 ; RCV002482210
• dbSNP Id: rs768338285
• ExAC: 13:20763721 C / T
• gnomAD v2: 13-20763721-C-T
• gnomAD v3: 13-20189582-C-T
• gnomAD v4: 13-20189582-C-T
• MyVariant Identifiers: chr13:g.20763721C>T (hg19) ; chr13:g.20189582C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189582C>T , CM000675.2:g.20189582C>T	GRCh38
NC_000013.10:g.20763721C>T , CM000675.1:g.20763721C>T	GRCh37
NC_000013.9:g.19661721C>T	NCBI36
NG_008358.1:g.8394G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.-1G>A	ENSP00000372295.1:n.-1G>A
ENST00000382848.5:c.-1G>A MANE Select	ENSP00000372299.4:n.-1G>A
ENST00000382844.1:c.-1G>A	ENSP00000372295.1:n.-1G>A
ENST00000382848.4:c.-1G>A	ENSP00000372299.4:n.-1G>A
NM_004004.5:c.-1G>A	NP_003995.2:n.-1G>A
XM_011535049.1:c.-1G>A	XP_011533351.1:n.-1G>A
XM_011535049.2:c.-1G>A	XP_011533351.1:n.-1G>A
NM_004004.6:c.-1G>A MANE Select	NP_003995.2:n.-1G>A