Canonical Allele Identifier: CA16621593

Gene: USH2A USH2A-AS1

Linked Data

• ClinVar Variation Id: 424938
• ClinVar RCV Id: RCV000488016 ; RCV001199794
• dbSNP Id: rs1064797137
• gnomAD v4: 1-216199977-A-G
• MyVariant Identifiers: chr1:g.216373319A>G (hg19) ; chr1:g.216199977A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216199977A>G , CM000663.2:g.216199977A>G	GRCh38
NC_000001.10:g.216373319A>G , CM000663.1:g.216373319A>G	GRCh37
NC_000001.9:g.214439942A>G	NCBI36
NG_009497.1:g.228420T>C
NG_009497.2:g.228472T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.3461T>C (USH2A) MANE Select	ENSP00000305941.3:p.Leu1154Ser
ENST00000674083.1:c.3461T>C (USH2A)	ENSP00000501296.1:p.Leu1154Ser
ENST00000307340.7:c.3461T>C (USH2A)	ENSP00000305941.3:p.Leu1154Ser
ENST00000366942.3:c.3461T>C (USH2A)	ENSP00000355909.3:p.Leu1154Ser
NM_007123.5:c.3461T>C (USH2A)	NP_009054.5:p.Leu1154Ser
NM_206933.2:c.3461T>C (USH2A)	NP_996816.2:p.Leu1154Ser
XR_922595.1:n.355-4053A>G (USH2A-AS1)
XR_922596.1:n.354+4052A>G (USH2A-AS1)
XR_922597.1:n.354+4052A>G (USH2A-AS1)
XR_922598.1:n.485-4053A>G (USH2A-AS1)
XR_922595.3:n.1077-4053A>G (USH2A-AS1)
XR_922596.3:n.1076+4052A>G (USH2A-AS1)
NM_206933.3:c.3461T>C (USH2A)	NP_996816.2:p.Leu1154Ser
NM_007123.6:c.3461T>C (USH2A)	NP_009054.6:p.Leu1154Ser
NM_206933.4:c.3461T>C (USH2A) MANE Select	NP_996816.3:p.Leu1154Ser