Canonical Allele Identifier: CA2499221956

Gene: GJB2

Linked Data

• ClinVar Variation Id: 1068780
• ClinVar RCV Id: RCV001380453
• dbSNP Id: rs2137308791

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189520_20189530del , CM000675.2:g.20189520_20189530del	GRCh38
NC_000013.10:g.20763659_20763669del , CM000675.1:g.20763659_20763669del	GRCh37
NC_000013.9:g.19661659_19661669del	NCBI36
NG_008358.1:g.8447_8457del

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.53_63del	ENSP00000372295.1:p.Thr18LysfsTer26
ENST00000382848.5:c.53_63del MANE Select	ENSP00000372299.4:p.Thr18LysfsTer26
ENST00000382844.1:c.53_63del	ENSP00000372295.1:p.Thr18LysfsTer26
ENST00000382848.4:c.53_63del	ENSP00000372299.4:p.Thr18LysfsTer26
NM_004004.5:c.53_63del	NP_003995.2:p.Thr18LysfsTer26
XM_011535049.1:c.53_63del	XP_011533351.1:p.Thr18LysfsTer26
XM_011535049.2:c.53_63del	XP_011533351.1:p.Thr18LysfsTer26
NM_004004.6:c.53_63del MANE Select	NP_003995.2:p.Thr18LysfsTer26