Canonical Allele Identifier: CA2622251893
Gene: GJB2 HGNC NCBI

Linked Data

gnomAD v4: 13-20188788-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188788A>G , CM000675.2:g.20188788A>G GRCh38
NC_000013.10:g.20762927A>G , CM000675.1:g.20762927A>G GRCh37
NC_000013.9:g.19660927A>G NCBI36
NG_008358.1:g.9188T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.*113T>C ENSP00000372295.1:n.*113T>C
ENST00000382848.5:c.*113T>C MANE Select ENSP00000372299.4:n.*113T>C
ENST00000382844.1:c.*113T>C ENSP00000372295.1:n.*113T>C
ENST00000382848.4:c.*113T>C ENSP00000372299.4:n.*113T>C
NM_004004.5:c.*113T>C NP_003995.2:n.*113T>C
XM_011535049.1:c.*113T>C XP_011533351.1:n.*113T>C
XM_011535049.2:c.*113T>C XP_011533351.1:n.*113T>C
NM_004004.6:c.*113T>C MANE Select NP_003995.2:n.*113T>C
Search 100 bp 5'
Search 100 bp 3'