Canonical Allele Identifier: CA658823494

Gene: GJB2

Linked Data

• ClinVar Variation Id: 549983
• ClinVar RCV Id: RCV000664585
• dbSNP Id: rs1555341993
• MyVariant Identifiers: chr13:g.20189451_20189452del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189454_20189455del , CM000675.2:g.20189454_20189455del	GRCh38
NC_000013.10:g.20763593_20763594del , CM000675.1:g.20763593_20763594del	GRCh37
NC_000013.9:g.19661593_19661594del	NCBI36
NG_008358.1:g.8524_8525del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.130_131del	ENSP00000372295.1:p.Trp44GlyfsTer3
ENST00000382848.5:c.130_131del MANE Select	ENSP00000372299.4:p.Trp44GlyfsTer3
ENST00000382844.1:c.130_131del	ENSP00000372295.1:p.Trp44GlyfsTer3
ENST00000382848.4:c.130_131del	ENSP00000372299.4:p.Trp44GlyfsTer3
NM_004004.5:c.130_131del	NP_003995.2:p.Trp44GlyfsTer3
XM_011535049.1:c.130_131del	XP_011533351.1:p.Trp44GlyfsTer3
XM_011535049.2:c.130_131del	XP_011533351.1:p.Trp44GlyfsTer3
NM_004004.6:c.130_131del MANE Select	NP_003995.2:p.Trp44GlyfsTer3