Canonical Allele Identifier: CA1139663000
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 882320
ClinVar RCV Id: RCV001111909 RCV001111908 RCV001111910
dbSNP Id: rs1959052059
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188516C>G , CM000675.2:g.20188516C>G GRCh38
NC_000013.10:g.20762655C>G , CM000675.1:g.20762655C>G GRCh37
NC_000013.9:g.19660655C>G NCBI36
NG_008358.1:g.9460G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.*385G>C ENSP00000372295.1:n.*385G>C
ENST00000382848.5:c.*385G>C MANE Select ENSP00000372299.4:n.*385G>C
ENST00000382844.1:c.*385G>C ENSP00000372295.1:n.*385G>C
ENST00000382848.4:c.*385G>C ENSP00000372299.4:n.*385G>C
NM_004004.5:c.*385G>C NP_003995.2:n.*385G>C
XM_011535049.1:c.*385G>C XP_011533351.1:n.*385G>C
XM_011535049.2:c.*385G>C XP_011533351.1:n.*385G>C
NM_004004.6:c.*385G>C MANE Select NP_003995.2:n.*385G>C
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