Canonical Allele Identifier: CA2727617786
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs2137312363
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20192900G>C , CM000675.2:g.20192900G>C GRCh38
NC_000013.10:g.20767039G>C , CM000675.1:g.20767039G>C GRCh37
NC_000013.9:g.19665039G>C NCBI36
NG_008358.1:g.5076C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382848.5:c.-140C>G MANE Select ENSP00000372299.4:n.-140C>G
NM_004004.5:c.-140C>G NP_003995.2:n.-140C>G
NM_004004.6:c.-140C>G MANE Select NP_003995.2:n.-140C>G
Search 100 bp 5'
Search 100 bp 3'