Canonical Allele Identifier: CA246459613
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs112399473
MyVariant Identifiers: chr13:g.20762995C>T (hg19) chr13:g.20188856C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188856C>T , CM000675.2:g.20188856C>T GRCh38
NC_000013.10:g.20762995C>T , CM000675.1:g.20762995C>T GRCh37
NC_000013.9:g.19660995C>T NCBI36
NG_008358.1:g.9120G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.*45G>A ENSP00000372295.1:n.*45G>A
ENST00000382848.5:c.*45G>A MANE Select ENSP00000372299.4:n.*45G>A
ENST00000382844.1:c.*45G>A ENSP00000372295.1:n.*45G>A
ENST00000382848.4:c.*45G>A ENSP00000372299.4:n.*45G>A
NM_004004.5:c.*45G>A NP_003995.2:n.*45G>A
XM_011535049.1:c.*45G>A XP_011533351.1:n.*45G>A
XM_011535049.2:c.*45G>A XP_011533351.1:n.*45G>A
NM_004004.6:c.*45G>A MANE Select NP_003995.2:n.*45G>A
Search 100 bp 5'
Search 100 bp 3'