Canonical Allele Identifier: CA1395839
Gene: USH2A HGNC NCBI
USH2A-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 550393
dbSNP Id: rs201190539
COSMIC: COSM385088

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216198326G>A , CM000663.2:g.216198326G>A GRCh38
NC_000001.10:g.216371668G>A , CM000663.1:g.216371668G>A GRCh37
NC_000001.9:g.214438291G>A NCBI36
NG_009497.1:g.230071C>T
NG_009497.2:g.230123C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.4070C>T (USH2A) MANE Select ENSP00000305941.3:p.Thr1357Met
ENST00000674083.1:c.4070C>T (USH2A) ENSP00000501296.1:p.Thr1357Met
ENST00000307340.7:c.4070C>T (USH2A) ENSP00000305941.3:p.Thr1357Met
ENST00000366942.3:c.4070C>T (USH2A) ENSP00000355909.3:p.Thr1357Met
NM_007123.5:c.4070C>T (USH2A) NP_009054.5:p.Thr1357Met
NM_206933.2:c.4070C>T (USH2A) NP_996816.2:p.Thr1357Met
XR_922595.1:n.354+2401G>A (USH2A-AS1)
XR_922596.1:n.354+2401G>A (USH2A-AS1)
XR_922597.1:n.354+2401G>A (USH2A-AS1)
XR_922598.1:n.484+2401G>A (USH2A-AS1)
XR_922595.3:n.1076+2401G>A (USH2A-AS1)
XR_922596.3:n.1076+2401G>A (USH2A-AS1)
NM_206933.3:c.4070C>T (USH2A) NP_996816.2:p.Thr1357Met
NM_007123.6:c.4070C>T (USH2A) NP_009054.6:p.Thr1357Met
NM_206933.4:c.4070C>T (USH2A) MANE Select NP_996816.3:p.Thr1357Met