Canonical Allele Identifier: CA143215
Gene: USH2A HGNC NCBI
ClinVar RCV:
RCV000041665
RCV000986525
RCV001514999
RCV003887881
ClinVar Variation:
48344
COSMIC:
COSM3750863
COSM3750864
dbSNP:
10864198
gnomAD v2:
1:215960167 T / G
gnomAD v3:
1:215786825 T / G
gnomAD v4:
chr1-215786825-T-G
Joint Max Group AF 0.6834801 (AFR)
Genomes Max Group AF 0.67715712 (AFR)
Exomes Max Group AF 0.68672238 (AFR)
MyVariant.info:
GRCh38 chr1:g.215786825T>G
GRCh37 chr1:g.215960167T>G
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215786825T>G , CM000663.2:g.215786825T>G GRCh38
NC_000001.10:g.215960167T>G , CM000663.1:g.215960167T>G GRCh37
NC_000001.9:g.214026790T>G NCBI36
NG_009497.1:g.641572A>C
NG_009497.2:g.641624A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10232A>C MANE Select ENSP00000305941.3:p.Glu3411Ala
ENST00000674083.1:c.10232A>C ENSP00000501296.1:p.Glu3411Ala
ENST00000307340.7:c.10232A>C ENSP00000305941.3:p.Glu3411Ala
NM_206933.2:c.10232A>C NP_996816.2:p.Glu3411Ala
NM_206933.3:c.10232A>C NP_996816.2:p.Glu3411Ala
NM_206933.4:c.10232A>C MANE Select NP_996816.3:p.Glu3411Ala
Search 100 bp 5'
Search 100 bp 3'