Canonical Allele Identifier: CA387460771

Gene: GJB2

Linked Data

• dbSNP Id: rs765660346
• gnomAD v2: 13-20763094-T-G
• gnomAD v4: 13-20188955-T-G
• MyVariant Identifiers: chr13:g.20763094T>G (hg19) ; chr13:g.20188955T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20188955T>G , CM000675.2:g.20188955T>G	GRCh38
NC_000013.10:g.20763094T>G , CM000675.1:g.20763094T>G	GRCh37
NC_000013.9:g.19661094T>G	NCBI36
NG_008358.1:g.9021A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.627A>C	ENSP00000372295.1:p.Glu209Asp
ENST00000382848.5:c.627A>C MANE Select	ENSP00000372299.4:p.Glu209Asp
ENST00000382844.1:c.627A>C	ENSP00000372295.1:p.Glu209Asp
ENST00000382848.4:c.627A>C	ENSP00000372299.4:p.Glu209Asp
NM_004004.5:c.627A>C	NP_003995.2:p.Glu209Asp
XM_011535049.1:c.627A>C	XP_011533351.1:p.Glu209Asp
XM_011535049.2:c.627A>C	XP_011533351.1:p.Glu209Asp
NM_004004.6:c.627A>C MANE Select	NP_003995.2:p.Glu209Asp