Canonical Allele Identifier: CA37504568
Gene: USH2A HGNC NCBI
USH2A-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1157864
ClinVar RCV Id: RCV001501085
dbSNP Id: rs555590539

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216199679T>C , CM000663.2:g.216199679T>C GRCh38
NC_000001.10:g.216373021T>C , CM000663.1:g.216373021T>C GRCh37
NC_000001.9:g.214439644T>C NCBI36
NG_009497.1:g.228718A>G
NG_009497.2:g.228770A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.3759A>G (USH2A) MANE Select ENSP00000305941.3:p.Lys1253=
ENST00000674083.1:c.3759A>G (USH2A) ENSP00000501296.1:p.Lys1253=
ENST00000307340.7:c.3759A>G (USH2A) ENSP00000305941.3:p.Lys1253=
ENST00000366942.3:c.3759A>G (USH2A) ENSP00000355909.3:p.Lys1253=
NM_007123.5:c.3759A>G (USH2A) NP_009054.5:p.Lys1253=
NM_206933.2:c.3759A>G (USH2A) NP_996816.2:p.Lys1253=
XR_922595.1:n.354+3754T>C (USH2A-AS1)
XR_922596.1:n.354+3754T>C (USH2A-AS1)
XR_922597.1:n.354+3754T>C (USH2A-AS1)
XR_922598.1:n.484+3754T>C (USH2A-AS1)
XR_922595.3:n.1076+3754T>C (USH2A-AS1)
XR_922596.3:n.1076+3754T>C (USH2A-AS1)
NM_206933.3:c.3759A>G (USH2A) NP_996816.2:p.Lys1253=
NM_007123.6:c.3759A>G (USH2A) NP_009054.6:p.Lys1253=
NM_206933.4:c.3759A>G (USH2A) MANE Select NP_996816.3:p.Lys1253=