Canonical Allele Identifier: CA134960

Gene: GJB2

Linked Data

• ClinVar Variation Id: 44739
• ClinVar RCV Id: RCV000037838 ; RCV000505536 ; RCV000588130 ; RCV001112559 ; RCV001112560
• dbSNP Id: rs2274083
• ExAC: 13:20763380 T / C
• gnomAD v2: 13-20763380-T-C
• gnomAD v3: 13-20189241-T-C
• gnomAD v4: 13-20189241-T-C
• MyVariant Identifiers: chr13:g.20763380T>C (hg19) ; chr13:g.20189241T>C (hg38)
• PubMed: PMID:10607953 ; PMID:10633133 ; PMID:10983956 ; PMID:11494963 ; PMID:11698809 ; PMID:12172392 ; PMID:12172394 ; PMID:12352684 ; PMID:12673800 ; PMID:12746422 ; PMID:12792423 ; PMID:12865758 ; PMID:14505035 ; PMID:15479191 ; PMID:15504600 ; PMID:15666300 ; PMID:15790391 ; PMID:19366456 ; PMID:19719946 ; PMID:20201936 ; PMID:20497192 ; PMID:20607074 ; PMID:20668687 ; PMID:21298213 ; PMID:22613756 ; PMID:23826813 ; PMID:24785414

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189241T>C , CM000675.2:g.20189241T>C	GRCh38
NC_000013.10:g.20763380T>C , CM000675.1:g.20763380T>C	GRCh37
NC_000013.9:g.19661380T>C	NCBI36
NG_008358.1:g.8735A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.341A>G	ENSP00000372295.1:p.Glu114Gly
ENST00000382848.5:c.341A>G MANE Select	ENSP00000372299.4:p.Glu114Gly
ENST00000382844.1:c.341A>G	ENSP00000372295.1:p.Glu114Gly
ENST00000382848.4:c.341A>G	ENSP00000372299.4:p.Glu114Gly
NM_004004.5:c.341A>G	NP_003995.2:p.Glu114Gly
XM_011535049.1:c.341A>G	XP_011533351.1:p.Glu114Gly
XM_011535049.2:c.341A>G	XP_011533351.1:p.Glu114Gly
NM_004004.6:c.341A>G MANE Select	NP_003995.2:p.Glu114Gly