Canonical Allele Identifier: CA260409

Gene: GJB2

Linked Data

• ClinVar Variation Id: 36278
• ClinVar RCV Id: RCV000029941 ; RCV000281606 ; RCV000348316 ; RCV001642241 ; RCV002504831
• dbSNP Id: rs7329857
• gnomAD v2: 13-20762929-G-A
• gnomAD v3: 13-20188790-G-A
• gnomAD v4: 13-20188790-G-A
• MyVariant Identifiers: chr13:g.20762929G>A (hg19) ; chr13:g.20188790G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20188790G>A , CM000675.2:g.20188790G>A	GRCh38
NC_000013.10:g.20762929G>A , CM000675.1:g.20762929G>A	GRCh37
NC_000013.9:g.19660929G>A	NCBI36
NG_008358.1:g.9186C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.*111C>T	ENSP00000372295.1:n.*111C>T
ENST00000382848.5:c.*111C>T MANE Select	ENSP00000372299.4:n.*111C>T
ENST00000382844.1:c.*111C>T	ENSP00000372295.1:n.*111C>T
ENST00000382848.4:c.*111C>T	ENSP00000372299.4:n.*111C>T
NM_004004.5:c.*111C>T	NP_003995.2:n.*111C>T
XM_011535049.1:c.*111C>T	XP_011533351.1:n.*111C>T
XM_011535049.2:c.*111C>T	XP_011533351.1:n.*111C>T
NM_004004.6:c.*111C>T MANE Select	NP_003995.2:n.*111C>T