Canonical Allele Identifier: CA6904232
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1479826
ClinVar RCV Id: RCV001991045
dbSNP Id: rs570552952

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188997C>A , CM000675.2:g.20188997C>A GRCh38
NC_000013.10:g.20763136C>A , CM000675.1:g.20763136C>A GRCh37
NC_000013.9:g.19661136C>A NCBI36
NG_008358.1:g.8979G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.585G>T ENSP00000372295.1:p.Met195Ile
ENST00000382848.5:c.585G>T MANE Select ENSP00000372299.4:p.Met195Ile
ENST00000382844.1:c.585G>T ENSP00000372295.1:p.Met195Ile
ENST00000382848.4:c.585G>T ENSP00000372299.4:p.Met195Ile
NM_004004.5:c.585G>T NP_003995.2:p.Met195Ile
XM_011535049.1:c.585G>T XP_011533351.1:p.Met195Ile
XM_011535049.2:c.585G>T XP_011533351.1:p.Met195Ile
NM_004004.6:c.585G>T MANE Select NP_003995.2:p.Met195Ile