Canonical Allele Identifier: CA387461604

Gene: GJB2

Linked Data

• dbSNP Id: rs1313758826
• gnomAD v2: 13-20763506-G-A
• gnomAD v3: 13-20189367-G-A
• gnomAD v4: 13-20189367-G-A
• MyVariant Identifiers: chr13:g.20763506G>A (hg19) ; chr13:g.20189367G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189367G>A , CM000675.2:g.20189367G>A	GRCh38
NC_000013.10:g.20763506G>A , CM000675.1:g.20763506G>A	GRCh37
NC_000013.9:g.19661506G>A	NCBI36
NG_008358.1:g.8609C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.215C>T	ENSP00000372295.1:p.Ser72Phe
ENST00000382848.5:c.215C>T MANE Select	ENSP00000372299.4:p.Ser72Phe
ENST00000382844.1:c.215C>T	ENSP00000372295.1:p.Ser72Phe
ENST00000382848.4:c.215C>T	ENSP00000372299.4:p.Ser72Phe
NM_004004.5:c.215C>T	NP_003995.2:p.Ser72Phe
XM_011535049.1:c.215C>T	XP_011533351.1:p.Ser72Phe
XM_011535049.2:c.215C>T	XP_011533351.1:p.Ser72Phe
NM_004004.6:c.215C>T MANE Select	NP_003995.2:p.Ser72Phe