Canonical Allele Identifier: CA2622252060

Gene: GJB2

Linked Data

• gnomAD v4: 13-20188896-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20188896A>G , CM000675.2:g.20188896A>G	GRCh38
NC_000013.10:g.20763035A>G , CM000675.1:g.20763035A>G	GRCh37
NC_000013.9:g.19661035A>G	NCBI36
NG_008358.1:g.9080T>C

Transcript Alleles

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