Canonical Allele Identifier: CA143409
Gene: USH2A HGNC NCBI
ClinGen Classification:
Classification Benign
Condition Usher syndrome
VCEP Hearing Loss VCEP
ClinVar RCV:
RCV000041791
RCV000710325
RCV000986512
RCV001509628
RCV002504926
RCV003887903
ClinVar Variation:
48468
dbSNP:
58257972
gnomAD v2:
1:215799170 T / C
gnomAD v3:
1:215625828 T / C
gnomAD v4:
chr1-215625828-T-C
Joint Max Group AF 0.06704304 (SAS)
Genomes Max Group AF 0.06424798 (SAS)
Exomes Max Group AF 0.066896 (SAS)
MyVariant.info:
GRCh38 chr1:g.215625828T>C
GRCh37 chr1:g.215799170T>C
Revel Score:
ENST00000307340 (MANE Select) 0.075
ENST00000366943 0.075
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215625828T>C , CM000663.2:g.215625828T>C GRCh38
NC_000001.10:g.215799170T>C , CM000663.1:g.215799170T>C GRCh37
NC_000001.9:g.213865793T>C NCBI36
NG_009497.1:g.802569A>G
NG_009497.2:g.802621A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.15562A>G MANE Select ENSP00000305941.3:p.Ser5188Gly
ENST00000674083.1:c.15634A>G ENSP00000501296.1:p.Ser5212Gly
ENST00000307340.7:c.15562A>G ENSP00000305941.3:p.Ser5188Gly
NM_206933.2:c.15562A>G NP_996816.2:p.Ser5188Gly
NM_206933.3:c.15562A>G NP_996816.2:p.Ser5188Gly
NM_206933.4:c.15562A>G MANE Select NP_996816.3:p.Ser5188Gly
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