Canonical Allele Identifier: CA16617060

Gene: USH2A USH2A-AS1

Linked Data

• ClinVar Variation Id: 419244
• ClinVar RCV Id: RCV000485380 ; RCV000674309 ; RCV003449188 ; RCV003449187
• dbSNP Id: rs1064793745
• gnomAD v2: 1-216373273-C-T
• gnomAD v4: 1-216199931-C-T
• COSMIC: COSM5941590 ; COSM5941591 ; COSM5941592
• MyVariant Identifiers: chr1:g.216373273C>T (hg19) ; chr1:g.216199931C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216199931C>T , CM000663.2:g.216199931C>T	GRCh38
NC_000001.10:g.216373273C>T , CM000663.1:g.216373273C>T	GRCh37
NC_000001.9:g.214439896C>T	NCBI36
NG_009497.1:g.228466G>A
NG_009497.2:g.228518G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.3507G>A (USH2A) MANE Select	ENSP00000305941.3:p.Trp1169Ter
ENST00000674083.1:c.3507G>A (USH2A)	ENSP00000501296.1:p.Trp1169Ter
ENST00000307340.7:c.3507G>A (USH2A)	ENSP00000305941.3:p.Trp1169Ter
ENST00000366942.3:c.3507G>A (USH2A)	ENSP00000355909.3:p.Trp1169Ter
NM_007123.5:c.3507G>A (USH2A)	NP_009054.5:p.Trp1169Ter
NM_206933.2:c.3507G>A (USH2A)	NP_996816.2:p.Trp1169Ter
XR_922595.1:n.354+4006C>T (USH2A-AS1)
XR_922596.1:n.354+4006C>T (USH2A-AS1)
XR_922597.1:n.354+4006C>T (USH2A-AS1)
XR_922598.1:n.484+4006C>T (USH2A-AS1)
XR_922595.3:n.1076+4006C>T (USH2A-AS1)
XR_922596.3:n.1076+4006C>T (USH2A-AS1)
NM_206933.3:c.3507G>A (USH2A)	NP_996816.2:p.Trp1169Ter
NM_007123.6:c.3507G>A (USH2A)	NP_009054.6:p.Trp1169Ter
NM_206933.4:c.3507G>A (USH2A) MANE Select	NP_996816.3:p.Trp1169Ter