Canonical Allele Identifier: CA143304
Gene: USH2A HGNC NCBI
ClinGen Evidence Repository:
Classification Likely Pathogenic
Condition inherited retinal dystrophy
VCEP Hearing Loss VCEP
MyVariant.info:
GRCh38 chr1:g.215675037T>C
GRCh37 chr1:g.215848379T>C
Revel Score:
ENST00000307340 (MANE Select) 0.707
ENST00000366943 0.707
gnomAD v2:
1:215848379 T / C
gnomAD v4:
chr1-215675037-T-C
Joint Max Group AF 0.000145 (SAS)
Exomes Max Group AF 0.00015298 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675037T>C , CM000663.2:g.215675037T>C GRCh38
NC_000001.10:g.215848379T>C , CM000663.1:g.215848379T>C GRCh37
NC_000001.9:g.213915002T>C NCBI36
NG_009497.1:g.753360A>G
NG_009497.2:g.753412A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12874A>G MANE Select ENSP00000305941.3:p.Asn4292Asp
ENST00000674083.1:c.12874A>G ENSP00000501296.1:p.Asn4292Asp
ENST00000307340.7:c.12874A>G ENSP00000305941.3:p.Asn4292Asp
NM_206933.2:c.12874A>G NP_996816.2:p.Asn4292Asp
NM_206933.3:c.12874A>G NP_996816.2:p.Asn4292Asp
NM_206933.4:c.12874A>G MANE Select NP_996816.3:p.Asn4292Asp
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