Canonical Allele Identifier: CA2622252641
Gene: GJB2 HGNC NCBI

Linked Data

gnomAD v4: 13-20192701-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20192701G>A , CM000675.2:g.20192701G>A GRCh38
NC_000013.10:g.20766840G>A , CM000675.1:g.20766840G>A GRCh37
NC_000013.9:g.19664840G>A NCBI36
NG_008358.1:g.5275C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382848.5:c.-23+82C>T MANE Select ENSP00000372299.4:n.-23+82C>T
ENST00000382848.4:c.-23+82C>T ENSP00000372299.4:n.-23+82C>T
NM_004004.5:c.-23+82C>T NP_003995.2:n.-23+82C>T
NM_004004.6:c.-23+82C>T MANE Select NP_003995.2:n.-23+82C>T
Search 100 bp 5'
Search 100 bp 3'