Canonical Allele Identifier: CA2622252778
Gene: GJB2 HGNC NCBI

Linked Data

gnomAD v4: 13-20192784-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20192784T>C , CM000675.2:g.20192784T>C GRCh38
NC_000013.10:g.20766923T>C , CM000675.1:g.20766923T>C GRCh37
NC_000013.9:g.19664923T>C NCBI36
NG_008358.1:g.5192A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382848.5:c.-24A>G MANE Select ENSP00000372299.4:n.-24A>G
ENST00000382848.4:c.-24A>G ENSP00000372299.4:n.-24A>G
NM_004004.5:c.-24A>G NP_003995.2:n.-24A>G
NM_004004.6:c.-24A>G MANE Select NP_003995.2:n.-24A>G
Search 100 bp 5'
Search 100 bp 3'