Canonical Allele Identifier: CA1396616
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 554336
ClinVar RCV Id: RCV002531241 RCV003472120
dbSNP Id: rs762384558
ExAC: 1:216498750 T / C
gnomAD v2: 1-216498750-T-C
gnomAD v3: 1-216325408-T-C
gnomAD v4: 1-216325408-T-C
MyVariant Identifiers: chr1:g.216498750T>C (hg19) chr1:g.216325408T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216325408T>C , CM000663.2:g.216325408T>C GRCh38
NC_000001.10:g.216498750T>C , CM000663.1:g.216498750T>C GRCh37
NC_000001.9:g.214565373T>C NCBI36
NG_009497.1:g.102989A>G
NG_009497.2:g.103041A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.1040A>G MANE Select ENSP00000305941.3:p.Asp347Gly
ENST00000674083.1:c.1040A>G ENSP00000501296.1:p.Asp347Gly
ENST00000307340.7:c.1040A>G ENSP00000305941.3:p.Asp347Gly
ENST00000366942.3:c.1040A>G ENSP00000355909.3:p.Asp347Gly
NM_007123.5:c.1040A>G NP_009054.5:p.Asp347Gly
NM_206933.2:c.1040A>G NP_996816.2:p.Asp347Gly
NM_206933.3:c.1040A>G NP_996816.2:p.Asp347Gly
NM_007123.6:c.1040A>G NP_009054.6:p.Asp347Gly
NM_206933.4:c.1040A>G MANE Select NP_996816.3:p.Asp347Gly
Search 100 bp 5'
Search 100 bp 3'