Canonical Allele Identifier: CA344862617
Gene: USH2A HGNC NCBI
USH2A-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1800581
ClinVar RCV Id: RCV002461720
dbSNP Id: rs1386887790

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216207417G>T , CM000663.2:g.216207417G>T GRCh38
NC_000001.10:g.216380759G>T , CM000663.1:g.216380759G>T GRCh37
NC_000001.9:g.214447382G>T NCBI36
NG_009497.1:g.220980C>A
NG_009497.2:g.221032C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.3172C>A (USH2A) MANE Select ENSP00000305941.3:p.Pro1058Thr
ENST00000674083.1:c.3172C>A (USH2A) ENSP00000501296.1:p.Pro1058Thr
ENST00000307340.7:c.3172C>A (USH2A) ENSP00000305941.3:p.Pro1058Thr
ENST00000366942.3:c.3172C>A (USH2A) ENSP00000355909.3:p.Pro1058Thr
NM_007123.5:c.3172C>A (USH2A) NP_009054.5:p.Pro1058Thr
NM_206933.2:c.3172C>A (USH2A) NP_996816.2:p.Pro1058Thr
XR_922596.1:n.354+11492G>T (USH2A-AS1)
XR_922597.1:n.354+11492G>T (USH2A-AS1)
XR_922596.3:n.1076+11492G>T (USH2A-AS1)
NM_206933.3:c.3172C>A (USH2A) NP_996816.2:p.Pro1058Thr
NM_007123.6:c.3172C>A (USH2A) NP_009054.6:p.Pro1058Thr
NM_206933.4:c.3172C>A (USH2A) MANE Select NP_996816.3:p.Pro1058Thr