Canonical Allele Identifier: CA179576

Gene: USH2A USH2A-AS1

Linked Data

• ClinVar Variation Id: 166511
• ClinVar RCV Id: RCV000152625 ; RCV000504687 ; RCV000894588 ; RCV001100645 ; RCV001100644 ; RCV004544387
• dbSNP Id: rs34596189
• ExAC: 1:216373385 C / T
• gnomAD v2: 1-216373385-C-T
• gnomAD v3: 1-216200043-C-T
• gnomAD v4: 1-216200043-C-T
• MyVariant Identifiers: chr1:g.216373385C>T (hg19) ; chr1:g.216200043C>T (hg38)
• PubMed: PMID:21738395 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216200043C>T , CM000663.2:g.216200043C>T	GRCh38
NC_000001.10:g.216373385C>T , CM000663.1:g.216373385C>T	GRCh37
NC_000001.9:g.214440008C>T	NCBI36
NG_009497.1:g.228354G>A
NG_009497.2:g.228406G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.3395G>A (USH2A) MANE Select	ENSP00000305941.3:p.Gly1132Asp
ENST00000674083.1:c.3395G>A (USH2A)	ENSP00000501296.1:p.Gly1132Asp
ENST00000307340.7:c.3395G>A (USH2A)	ENSP00000305941.3:p.Gly1132Asp
ENST00000366942.3:c.3395G>A (USH2A)	ENSP00000355909.3:p.Gly1132Asp
NM_007123.5:c.3395G>A (USH2A)	NP_009054.5:p.Gly1132Asp
NM_206933.2:c.3395G>A (USH2A)	NP_996816.2:p.Gly1132Asp
XR_922595.1:n.355-3987C>T (USH2A-AS1)
XR_922596.1:n.354+4118C>T (USH2A-AS1)
XR_922597.1:n.354+4118C>T (USH2A-AS1)
XR_922598.1:n.485-3987C>T (USH2A-AS1)
XR_922595.3:n.1077-3987C>T (USH2A-AS1)
XR_922596.3:n.1076+4118C>T (USH2A-AS1)
NM_206933.3:c.3395G>A (USH2A)	NP_996816.2:p.Gly1132Asp
NM_007123.6:c.3395G>A (USH2A)	NP_009054.6:p.Gly1132Asp
NM_206933.4:c.3395G>A (USH2A) MANE Select	NP_996816.3:p.Gly1132Asp