Canonical Allele Identifier: CA528725268

Gene: USH2A USH2A-AS1

Linked Data

• dbSNP Id: rs1204840852
• gnomAD v2: 1-216372984-G-GT
• gnomAD v4: 1-216199642-G-GT
• MyVariant Identifiers: chr1:g.216372984_216372985insT (hg19) ; chr1:g.216199642_216199643insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216199643dup , CM000663.2:g.216199643dup	GRCh38
NC_000001.10:g.216372985dup , CM000663.1:g.216372985dup	GRCh37
NC_000001.9:g.214439608dup	NCBI36
NG_009497.1:g.228754dup
NG_009497.2:g.228806dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.3795dup (USH2A) MANE Select	ENSP00000305941.3:p.Pro1266ThrfsTer12
ENST00000674083.1:c.3795dup (USH2A)	ENSP00000501296.1:p.Pro1266ThrfsTer12
ENST00000307340.7:c.3795dup (USH2A)	ENSP00000305941.3:p.Pro1266ThrfsTer12
ENST00000366942.3:c.3795dup (USH2A)	ENSP00000355909.3:p.Pro1266ThrfsTer12
NM_007123.5:c.3795dup (USH2A)	NP_009054.5:p.Pro1266ThrfsTer12
NM_206933.2:c.3795dup (USH2A)	NP_996816.2:p.Pro1266ThrfsTer12
XR_922595.1:n.354+3718dup (USH2A-AS1)
XR_922596.1:n.354+3718dup (USH2A-AS1)
XR_922597.1:n.354+3718dup (USH2A-AS1)
XR_922598.1:n.484+3718dup (USH2A-AS1)
XR_922595.3:n.1076+3718dup (USH2A-AS1)
XR_922596.3:n.1076+3718dup (USH2A-AS1)
NM_206933.3:c.3795dup (USH2A)	NP_996816.2:p.Pro1266ThrfsTer12
NM_007123.6:c.3795dup (USH2A)	NP_009054.6:p.Pro1266ThrfsTer12
NM_206933.4:c.3795dup (USH2A) MANE Select	NP_996816.3:p.Pro1266ThrfsTer12