Canonical Allele Identifier: CA2622252791
Gene: GJB2 HGNC NCBI

Linked Data

gnomAD v4: 13-20192791-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20192791G>A , CM000675.2:g.20192791G>A GRCh38
NC_000013.10:g.20766930G>A , CM000675.1:g.20766930G>A GRCh37
NC_000013.9:g.19664930G>A NCBI36
NG_008358.1:g.5185C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382848.5:c.-31C>T MANE Select ENSP00000372299.4:n.-31C>T
ENST00000382848.4:c.-31C>T ENSP00000372299.4:n.-31C>T
NM_004004.5:c.-31C>T NP_003995.2:n.-31C>T
NM_004004.6:c.-31C>T MANE Select NP_003995.2:n.-31C>T
Search 100 bp 5'
Search 100 bp 3'