Canonical Allele Identifier: CA387461078
Gene: GJB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.20763251A>C (hg19) chr13:g.20189112A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189112A>C , CM000675.2:g.20189112A>C GRCh38
NC_000013.10:g.20763251A>C , CM000675.1:g.20763251A>C GRCh37
NC_000013.9:g.19661251A>C NCBI36
NG_008358.1:g.8864T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.470T>G ENSP00000372295.1:p.Met157Arg
ENST00000382848.5:c.470T>G MANE Select ENSP00000372299.4:p.Met157Arg
ENST00000382844.1:c.470T>G ENSP00000372295.1:p.Met157Arg
ENST00000382848.4:c.470T>G ENSP00000372299.4:p.Met157Arg
NM_004004.5:c.470T>G NP_003995.2:p.Met157Arg
XM_011535049.1:c.470T>G XP_011533351.1:p.Met157Arg
XM_011535049.2:c.470T>G XP_011533351.1:p.Met157Arg
NM_004004.6:c.470T>G MANE Select NP_003995.2:p.Met157Arg
Search 100 bp 5'
Search 100 bp 3'