Canonical Allele Identifier: CA16621539

Gene: GJB2

Linked Data

• ClinVar Variation Id: 424853
• ClinVar RCV Id: RCV000487476
• dbSNP Id: rs1064797090
• MyVariant Identifiers: chr13:g.20763549G>C (hg19) ; chr13:g.20189410G>C (hg38)
• PubMed: PMID:20301708

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189410G>C , CM000675.2:g.20189410G>C	GRCh38
NC_000013.10:g.20763549G>C , CM000675.1:g.20763549G>C	GRCh37
NC_000013.9:g.19661549G>C	NCBI36
NG_008358.1:g.8566C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.172C>G	ENSP00000372295.1:p.Pro58Ala
ENST00000382848.5:c.172C>G MANE Select	ENSP00000372299.4:p.Pro58Ala
ENST00000382844.1:c.172C>G	ENSP00000372295.1:p.Pro58Ala
ENST00000382848.4:c.172C>G	ENSP00000372299.4:p.Pro58Ala
NM_004004.5:c.172C>G	NP_003995.2:p.Pro58Ala
XM_011535049.1:c.172C>G	XP_011533351.1:p.Pro58Ala
XM_011535049.2:c.172C>G	XP_011533351.1:p.Pro58Ala
NM_004004.6:c.172C>G MANE Select	NP_003995.2:p.Pro58Ala