Canonical Allele Identifier: CA16617059
Gene: USH2A HGNC NCBI
USH2A-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 418896
ClinVar RCV Id: RCV000479436 RCV003470537
dbSNP Id: rs1064793506
MyVariant Identifiers: chr1:g.216370021del (hg19) chr1:g.216196679del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216196679del , CM000663.2:g.216196679del GRCh38
NC_000001.10:g.216370021del , CM000663.1:g.216370021del GRCh37
NC_000001.9:g.214436644del NCBI36
NG_009497.1:g.231718del
NG_009497.2:g.231770del

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.4125del (USH2A) MANE Select ENSP00000305941.3:p.Tyr1376ThrfsTer?
ENST00000674083.1:c.4125del (USH2A) ENSP00000501296.1:p.Tyr1376ThrfsTer?
ENST00000307340.7:c.4125del (USH2A) ENSP00000305941.3:p.Tyr1376ThrfsTer?
ENST00000366942.3:c.4125del (USH2A) ENSP00000355909.3:p.Tyr1376ThrfsTer?
NM_007123.5:c.4125del (USH2A) NP_009054.5:p.Tyr1376ThrfsTer?
NM_206933.2:c.4125del (USH2A) NP_996816.2:p.Tyr1376ThrfsTer?
XR_922595.1:n.354+754del (USH2A-AS1)
XR_922596.1:n.354+754del (USH2A-AS1)
XR_922597.1:n.354+754del (USH2A-AS1)
XR_922598.1:n.484+754del (USH2A-AS1)
XR_922595.3:n.1076+754del (USH2A-AS1)
XR_922596.3:n.1076+754del (USH2A-AS1)
NM_206933.3:c.4125del (USH2A) NP_996816.2:p.Tyr1376ThrfsTer?
NM_007123.6:c.4125del (USH2A) NP_009054.6:p.Tyr1376ThrfsTer?
NM_206933.4:c.4125del (USH2A) MANE Select NP_996816.3:p.Tyr1376ThrfsTer?
Search 100 bp 5'
Search 100 bp 3'