Canonical Allele Identifier: CA387460984
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2137453
ClinVar RCV Id: RCV003062561

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189064G>C , CM000675.2:g.20189064G>C GRCh38
NC_000013.10:g.20763203G>C , CM000675.1:g.20763203G>C GRCh37
NC_000013.9:g.19661203G>C NCBI36
NG_008358.1:g.8912C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.518C>G ENSP00000372295.1:p.Pro173Arg
ENST00000382848.5:c.518C>G MANE Select ENSP00000372299.4:p.Pro173Arg
ENST00000382844.1:c.518C>G ENSP00000372295.1:p.Pro173Arg
ENST00000382848.4:c.518C>G ENSP00000372299.4:p.Pro173Arg
NM_004004.5:c.518C>G NP_003995.2:p.Pro173Arg
XM_011535049.1:c.518C>G XP_011533351.1:p.Pro173Arg
XM_011535049.2:c.518C>G XP_011533351.1:p.Pro173Arg
NM_004004.6:c.518C>G MANE Select NP_003995.2:p.Pro173Arg