Canonical Allele Identifier: CA387460786
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs958849318

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188963C>G , CM000675.2:g.20188963C>G GRCh38
NC_000013.10:g.20763102C>G , CM000675.1:g.20763102C>G GRCh37
NC_000013.9:g.19661102C>G NCBI36
NG_008358.1:g.9013G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.619G>C ENSP00000372295.1:p.Val207Leu
ENST00000382848.5:c.619G>C MANE Select ENSP00000372299.4:p.Val207Leu
ENST00000382844.1:c.619G>C ENSP00000372295.1:p.Val207Leu
ENST00000382848.4:c.619G>C ENSP00000372299.4:p.Val207Leu
NM_004004.5:c.619G>C NP_003995.2:p.Val207Leu
XM_011535049.1:c.619G>C XP_011533351.1:p.Val207Leu
XM_011535049.2:c.619G>C XP_011533351.1:p.Val207Leu
NM_004004.6:c.619G>C MANE Select NP_003995.2:p.Val207Leu