Canonical Allele Identifier: CA2077110164

Gene: GJB2

Linked Data

• ClinVar Variation Id: 997856
• ClinVar RCV Id: RCV001293460
• dbSNP Id: rs1959064381

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189593G>A , CM000675.2:g.20189593G>A	GRCh38
NC_000013.10:g.20763732G>A , CM000675.1:g.20763732G>A	GRCh37
NC_000013.9:g.19661732G>A	NCBI36
NG_008358.1:g.8383C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.-12C>T	ENSP00000372295.1:n.-12C>T
ENST00000382848.5:c.-12C>T MANE Select	ENSP00000372299.4:n.-12C>T
ENST00000382844.1:c.-12C>T	ENSP00000372295.1:n.-12C>T
ENST00000382848.4:c.-12C>T	ENSP00000372299.4:n.-12C>T
NM_004004.5:c.-12C>T	NP_003995.2:n.-12C>T
XM_011535049.1:c.-12C>T	XP_011533351.1:n.-12C>T
XM_011535049.2:c.-12C>T	XP_011533351.1:n.-12C>T
NM_004004.6:c.-12C>T MANE Select	NP_003995.2:n.-12C>T