Canonical Allele Identifier: CA143505
Gene: USH2A HGNC NCBI
USH2A-AS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 48525
ClinVar RCV Id: RCV000041851
dbSNP Id: rs56222536
ExAC: 1:216258213 A / G
gnomAD v2: 1-216258213-A-G
gnomAD v3: 1-216084871-A-G
gnomAD v4: 1-216084871-A-G
MyVariant Identifiers: chr1:g.216258213A>G (hg19) chr1:g.216084871A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216084871A>G , CM000663.2:g.216084871A>G GRCh38
NC_000001.10:g.216258213A>G , CM000663.1:g.216258213A>G GRCh37
NC_000001.9:g.214324836A>G NCBI36
NG_009497.1:g.343526T>C
NG_009497.2:g.343578T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.4994T>C (USH2A) MANE Select ENSP00000305941.3:p.Ile1665Thr
ENST00000674083.1:c.4994T>C (USH2A) ENSP00000501296.1:p.Ile1665Thr
ENST00000307340.7:c.4994T>C (USH2A) ENSP00000305941.3:p.Ile1665Thr
ENST00000463147.1:n.238T>C (USH2A)
ENST00000481786.1:n.236T>C (USH2A)
NM_206933.2:c.4994T>C (USH2A) NP_996816.2:p.Ile1665Thr
NR_125992.1:n.266-1851A>G (USH2A-AS2)
NR_125993.1:n.137-1851A>G (USH2A-AS2)
NM_206933.3:c.4994T>C (USH2A) NP_996816.2:p.Ile1665Thr
NM_206933.4:c.4994T>C (USH2A) MANE Select NP_996816.3:p.Ile1665Thr
Search 100 bp 5'
Search 100 bp 3'