Canonical Allele Identifier: CA658823446

Gene: GJB2

Linked Data

• ClinVar Variation Id: 556456
• ClinVar RCV Id: RCV000672467
• dbSNP Id: rs1555341874
• gnomAD v4: 13-20189095-TGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGC-T
• MyVariant Identifiers: chr13:g.20189096_20189137del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189098_20189139del , CM000675.2:g.20189098_20189139del	GRCh38
NC_000013.10:g.20763237_20763278del , CM000675.1:g.20763237_20763278del	GRCh37
NC_000013.9:g.19661237_19661278del	NCBI36
NG_008358.1:g.8839_8880del

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.445_486del	ENSP00000372295.1:p.Ala149_Ser162del
ENST00000382848.5:c.445_486del MANE Select	ENSP00000372299.4:p.Ala149_Ser162del
ENST00000382844.1:c.445_486del	ENSP00000372295.1:p.Ala149_Ser162del
ENST00000382848.4:c.445_486del	ENSP00000372299.4:p.Ala149_Ser162del
NM_004004.5:c.445_486del	NP_003995.2:p.Ala149_Ser162del
XM_011535049.1:c.445_486del	XP_011533351.1:p.Ala149_Ser162del
XM_011535049.2:c.445_486del	XP_011533351.1:p.Ala149_Ser162del
NM_004004.6:c.445_486del MANE Select	NP_003995.2:p.Ala149_Ser162del