Canonical Allele Identifier: CA658822783

Gene: USH2A USH2A-AS1

Linked Data

• ClinVar Variation Id: 552496
• ClinVar RCV Id: RCV000667768 ; RCV001074715 ; RCV001376335 ; RCV001066145 ; RCV003451661
• dbSNP Id: rs1553313810
• gnomAD v4: 1-216199848-GA-G
• MyVariant Identifiers: chr1:g.216199849del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216199851del , CM000663.2:g.216199851del	GRCh38
NC_000001.10:g.216373193del , CM000663.1:g.216373193del	GRCh37
NC_000001.9:g.214439816del	NCBI36
NG_009497.1:g.228548del
NG_009497.2:g.228600del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.3589del (USH2A) MANE Select	ENSP00000305941.3:p.Ser1197ProfsTer?
ENST00000674083.1:c.3589del (USH2A)	ENSP00000501296.1:p.Ser1197ProfsTer?
ENST00000307340.7:c.3589del (USH2A)	ENSP00000305941.3:p.Ser1197ProfsTer?
ENST00000366942.3:c.3589del (USH2A)	ENSP00000355909.3:p.Ser1197ProfsTer?
NM_007123.5:c.3589del (USH2A)	NP_009054.5:p.Ser1197ProfsTer?
NM_206933.2:c.3589del (USH2A)	NP_996816.2:p.Ser1197ProfsTer?
XR_922595.1:n.354+3926del (USH2A-AS1)
XR_922596.1:n.354+3926del (USH2A-AS1)
XR_922597.1:n.354+3926del (USH2A-AS1)
XR_922598.1:n.484+3926del (USH2A-AS1)
XR_922595.3:n.1076+3926del (USH2A-AS1)
XR_922596.3:n.1076+3926del (USH2A-AS1)
NM_206933.3:c.3589del (USH2A)	NP_996816.2:p.Ser1197ProfsTer?
NM_007123.6:c.3589del (USH2A)	NP_009054.6:p.Ser1197ProfsTer?
NM_206933.4:c.3589del (USH2A) MANE Select	NP_996816.3:p.Ser1197ProfsTer?