Canonical Allele Identifier: CA1395009

Gene: USH2A

Linked Data

• ClinVar Variation Id: 374591
• ClinVar RCV Id: RCV000416248 ; RCV000602087 ; RCV001271992 ; RCV002488860 ; RCV003330661 ; RCV003389472
• dbSNP Id: rs768253909
• ExAC: 1:216144041 C / T
• gnomAD v2: 1-216144041-C-T
• gnomAD v3: 1-215970699-C-T
• gnomAD v4: 1-215970699-C-T
• MyVariant Identifiers: chr1:g.216144041C>T (hg19) ; chr1:g.215970699C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215970699C>T , CM000663.2:g.215970699C>T	GRCh38
NC_000001.10:g.216144041C>T , CM000663.1:g.216144041C>T	GRCh37
NC_000001.9:g.214210664C>T	NCBI36
NG_009497.1:g.457698G>A
NG_009497.2:g.457750G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.6883G>A MANE Select	ENSP00000305941.3:p.Gly2295Arg
ENST00000674083.1:c.6883G>A	ENSP00000501296.1:p.Gly2295Arg
ENST00000307340.7:c.6883G>A	ENSP00000305941.3:p.Gly2295Arg
NM_206933.2:c.6883G>A	NP_996816.2:p.Gly2295Arg
NM_206933.3:c.6883G>A	NP_996816.2:p.Gly2295Arg
NM_206933.4:c.6883G>A MANE Select	NP_996816.3:p.Gly2295Arg