Canonical Allele Identifier: CA483154236

Gene: GJB2

Linked Data

• ClinVar Variation Id: 560671
• ClinVar RCV Id: RCV000678893
• dbSNP Id: rs1446334784
• MyVariant Identifiers: chr13:g.20763075T>G (hg19) ; chr13:g.20188936T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20188936T>G , CM000675.2:g.20188936T>G	GRCh38
NC_000013.10:g.20763075T>G , CM000675.1:g.20763075T>G	GRCh37
NC_000013.9:g.19661075T>G	NCBI36
NG_008358.1:g.9040A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.646A>C	ENSP00000372295.1:p.Arg216=
ENST00000382848.5:c.646A>C MANE Select	ENSP00000372299.4:p.Arg216=
ENST00000382844.1:c.646A>C	ENSP00000372295.1:p.Arg216=
ENST00000382848.4:c.646A>C	ENSP00000372299.4:p.Arg216=
NM_004004.5:c.646A>C	NP_003995.2:p.Arg216=
XM_011535049.1:c.646A>C	XP_011533351.1:p.Arg216=
XM_011535049.2:c.646A>C	XP_011533351.1:p.Arg216=
NM_004004.6:c.646A>C MANE Select	NP_003995.2:p.Arg216=