Canonical Allele Identifier: CA696366034
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs1435447401
gnomAD v3: 13-20192676-A-G
gnomAD v4: 13-20192676-A-G
MyVariant Identifiers: chr13:g.20766815A>G (hg19) chr13:g.20192676A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20192676A>G , CM000675.2:g.20192676A>G GRCh38
NC_000013.10:g.20766815A>G , CM000675.1:g.20766815A>G GRCh37
NC_000013.9:g.19664815A>G NCBI36
NG_008358.1:g.5300T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382848.5:c.-23+107T>C MANE Select ENSP00000372299.4:n.-23+107T>C
ENST00000382848.4:c.-23+107T>C ENSP00000372299.4:n.-23+107T>C
NM_004004.5:c.-23+107T>C NP_003995.2:n.-23+107T>C
NM_004004.6:c.-23+107T>C MANE Select NP_003995.2:n.-23+107T>C
Search 100 bp 5'
Search 100 bp 3'