Canonical Allele Identifier: CA16621593
Gene: USH2A HGNC NCBI
USH2A-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 424938
dbSNP Id: rs1064797137

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