Canonical Allele Identifier: CA179542
Gene: USH2A HGNC NCBI
ClinGen Evidence Repository:
Classification Uncertain Significance
Condition Usher syndrome
VCEP Hearing Loss VCEP
MyVariant.info:
GRCh38 chr1:g.215993095C>T
GRCh37 chr1:g.216166437C>T
Revel Score:
ENST00000307340 (MANE Select) 0.280
ENST00000366943 0.280
gnomAD v2:
1:216166437 C / T
gnomAD v3:
1:215993095 C / T
gnomAD v4:
chr1-215993095-C-T
Joint Max Group AF 0.00311207 (SAS)
Genomes Max Group AF 0.00274758 (SAS)
Exomes Max Group AF 0.00306603 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215993095C>T , CM000663.2:g.215993095C>T GRCh38
NC_000001.10:g.216166437C>T , CM000663.1:g.216166437C>T GRCh37
NC_000001.9:g.214233060C>T NCBI36
NG_009497.1:g.435302G>A
NG_009497.2:g.435354G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.6730G>A MANE Select ENSP00000305941.3:p.Val2244Met
ENST00000674083.1:c.6730G>A ENSP00000501296.1:p.Val2244Met
ENST00000307340.7:c.6730G>A ENSP00000305941.3:p.Val2244Met
NM_206933.2:c.6730G>A NP_996816.2:p.Val2244Met
NM_206933.3:c.6730G>A NP_996816.2:p.Val2244Met
NM_206933.4:c.6730G>A MANE Select NP_996816.3:p.Val2244Met
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