Canonical Allele Identifier: CA246461363
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs895475238
gnomAD v2: 13-20763930-C-G
gnomAD v3: 13-20189791-C-G
gnomAD v4: 13-20189791-C-G
MyVariant Identifiers: chr13:g.20763930C>G (hg19) chr13:g.20189791C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189791C>G , CM000675.2:g.20189791C>G GRCh38
NC_000013.10:g.20763930C>G , CM000675.1:g.20763930C>G GRCh37
NC_000013.9:g.19661930C>G NCBI36
NG_008358.1:g.8185G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382848.5:c.-22-188G>C MANE Select ENSP00000372299.4:n.-22-188G>C
ENST00000382848.4:c.-22-188G>C ENSP00000372299.4:n.-22-188G>C
NM_004004.5:c.-22-188G>C NP_003995.2:n.-22-188G>C
XM_011535049.1:c.-22-188G>C XP_011533351.1:n.-22-188G>C
XM_011535049.2:c.-22-188G>C XP_011533351.1:n.-22-188G>C
NM_004004.6:c.-22-188G>C MANE Select NP_003995.2:n.-22-188G>C
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