Canonical Allele Identifier: CA185105
Gene: USH2A HGNC NCBI
USH2A-AS2 HGNC NCBI
ClinGen Evidence Repository:
Classification Pathogenic
Condition inherited retinal dystrophy
VCEP Hearing Loss VCEP
MyVariant.info:
GRCh38 chr1:g.216084853C>T
GRCh37 chr1:g.216258195C>T
Revel Score:
ENST00000307340 (MANE Select) 0.906
ENST00000366943 0.906
gnomAD v2:
1:216258195 C / T
gnomAD v3:
1:216084853 C / T
gnomAD v4:
chr1-216084853-C-T
Joint Max Group AF 0.00043661 (SAS)
Exomes Max Group AF 0.00045166 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216084853C>T , CM000663.2:g.216084853C>T GRCh38
NC_000001.10:g.216258195C>T , CM000663.1:g.216258195C>T GRCh37
NC_000001.9:g.214324818C>T NCBI36
NG_009497.1:g.343544G>A
NG_009497.2:g.343596G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.5012G>A (USH2A) MANE Select ENSP00000305941.3:p.Gly1671Asp
ENST00000674083.1:c.5012G>A (USH2A) ENSP00000501296.1:p.Gly1671Asp
ENST00000307340.7:c.5012G>A (USH2A) ENSP00000305941.3:p.Gly1671Asp
ENST00000463147.1:n.256G>A (USH2A)
ENST00000481786.1:n.254G>A (USH2A)
NM_206933.2:c.5012G>A (USH2A) NP_996816.2:p.Gly1671Asp
NR_125992.1:n.266-1869C>T (USH2A-AS2)
NR_125993.1:n.137-1869C>T (USH2A-AS2)
NM_206933.3:c.5012G>A (USH2A) NP_996816.2:p.Gly1671Asp
NM_206933.4:c.5012G>A (USH2A) MANE Select NP_996816.3:p.Gly1671Asp
Search 100 bp 5'
Search 100 bp 3'