Canonical Allele Identifier: CA696366021

Gene: GJB2

Linked Data

• dbSNP Id: rs1391640786
• gnomAD v3: 13-20192661-G-A
• gnomAD v4: 13-20192661-G-A
• MyVariant Identifiers: chr13:g.20766800G>A (hg19) ; chr13:g.20192661G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20192661G>A , CM000675.2:g.20192661G>A	GRCh38
NC_000013.10:g.20766800G>A , CM000675.1:g.20766800G>A	GRCh37
NC_000013.9:g.19664800G>A	NCBI36
NG_008358.1:g.5315C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382848.5:c.-23+122C>T MANE Select	ENSP00000372299.4:n.-23+122C>T
ENST00000382848.4:c.-23+122C>T	ENSP00000372299.4:n.-23+122C>T
NM_004004.5:c.-23+122C>T	NP_003995.2:n.-23+122C>T
NM_004004.6:c.-23+122C>T MANE Select	NP_003995.2:n.-23+122C>T