Canonical Allele Identifier: CA387460810

Gene: GJB2

Linked Data

• ClinVar Variation Id: 2994400
• ClinVar RCV Id: RCV003856039
• gnomAD v4: 13-20188975-T-G
• MyVariant Identifiers: chr13:g.20763114T>G (hg19) ; chr13:g.20188975T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20188975T>G , CM000675.2:g.20188975T>G	GRCh38
NC_000013.10:g.20763114T>G , CM000675.1:g.20763114T>G	GRCh37
NC_000013.9:g.19661114T>G	NCBI36
NG_008358.1:g.9001A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.607A>C	ENSP00000372295.1:p.Ile203Leu
ENST00000382848.5:c.607A>C MANE Select	ENSP00000372299.4:p.Ile203Leu
ENST00000382844.1:c.607A>C	ENSP00000372295.1:p.Ile203Leu
ENST00000382848.4:c.607A>C	ENSP00000372299.4:p.Ile203Leu
NM_004004.5:c.607A>C	NP_003995.2:p.Ile203Leu
XM_011535049.1:c.607A>C	XP_011533351.1:p.Ile203Leu
XM_011535049.2:c.607A>C	XP_011533351.1:p.Ile203Leu
NM_004004.6:c.607A>C MANE Select	NP_003995.2:p.Ile203Leu