Canonical Allele Identifier: CA387461418

Gene: GJB2

Linked Data

• gnomAD v4: 13-20189271-C-G
• MyVariant Identifiers: chr13:g.20763410C>G (hg19) ; chr13:g.20189271C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189271C>G , CM000675.2:g.20189271C>G	GRCh38
NC_000013.10:g.20763410C>G , CM000675.1:g.20763410C>G	GRCh37
NC_000013.9:g.19661410C>G	NCBI36
NG_008358.1:g.8705G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.311G>C	ENSP00000372295.1:p.Arg104Thr
ENST00000382848.5:c.311G>C MANE Select	ENSP00000372299.4:p.Arg104Thr
ENST00000382844.1:c.311G>C	ENSP00000372295.1:p.Arg104Thr
ENST00000382848.4:c.311G>C	ENSP00000372299.4:p.Arg104Thr
NM_004004.5:c.311G>C	NP_003995.2:p.Arg104Thr
XM_011535049.1:c.311G>C	XP_011533351.1:p.Arg104Thr
XM_011535049.2:c.311G>C	XP_011533351.1:p.Arg104Thr
NM_004004.6:c.311G>C MANE Select	NP_003995.2:p.Arg104Thr