Canonical Allele Identifier: CA2622252800
Gene: GJB2 HGNC NCBI

Linked Data

gnomAD v4: 13-20192797-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20192797A>G , CM000675.2:g.20192797A>G GRCh38
NC_000013.10:g.20766936A>G , CM000675.1:g.20766936A>G GRCh37
NC_000013.9:g.19664936A>G NCBI36
NG_008358.1:g.5179T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000382848.5:c.-37T>C MANE Select ENSP00000372299.4:n.-37T>C
ENST00000382848.4:c.-37T>C ENSP00000372299.4:n.-37T>C
NM_004004.5:c.-37T>C NP_003995.2:n.-37T>C
NM_004004.6:c.-37T>C MANE Select NP_003995.2:n.-37T>C
Search 100 bp 5'
Search 100 bp 3'