Canonical Allele Identifier: CA696361885

Gene: GJB2

Linked Data

• dbSNP Id: rs1236248304
• gnomAD v4: 13-20188781-G-T
• MyVariant Identifiers: chr13:g.20762920G>T (hg19) ; chr13:g.20188781G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20188781G>T , CM000675.2:g.20188781G>T	GRCh38
NC_000013.10:g.20762920G>T , CM000675.1:g.20762920G>T	GRCh37
NC_000013.9:g.19660920G>T	NCBI36
NG_008358.1:g.9195C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.*120C>A	ENSP00000372295.1:n.*120C>A
ENST00000382848.5:c.*120C>A MANE Select	ENSP00000372299.4:n.*120C>A
ENST00000382844.1:c.*120C>A	ENSP00000372295.1:n.*120C>A
ENST00000382848.4:c.*120C>A	ENSP00000372299.4:n.*120C>A
NM_004004.5:c.*120C>A	NP_003995.2:n.*120C>A
XM_011535049.1:c.*120C>A	XP_011533351.1:n.*120C>A
XM_011535049.2:c.*120C>A	XP_011533351.1:n.*120C>A
NM_004004.6:c.*120C>A MANE Select	NP_003995.2:n.*120C>A