Canonical Allele Identifier: CA1396747
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1082281
ClinVar RCV Id: RCV001398554
dbSNP Id: rs779547717
ExAC: 1:216591928 A / C
gnomAD v2: 1-216591928-A-C
gnomAD v4: 1-216418586-A-C
MyVariant Identifiers: chr1:g.216591928A>C (hg19) chr1:g.216418586A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216418586A>C , CM000663.2:g.216418586A>C GRCh38
NC_000001.10:g.216591928A>C , CM000663.1:g.216591928A>C GRCh37
NC_000001.9:g.214658551A>C NCBI36
NG_009497.1:g.9811T>G
NG_009497.2:g.9863T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.579T>G MANE Select ENSP00000305941.3:p.Gly193=
ENST00000674083.1:c.579T>G ENSP00000501296.1:p.Gly193=
ENST00000307340.7:c.579T>G ENSP00000305941.3:p.Gly193=
ENST00000366942.3:c.579T>G ENSP00000355909.3:p.Gly193=
NM_007123.5:c.579T>G NP_009054.5:p.Gly193=
NM_206933.2:c.579T>G NP_996816.2:p.Gly193=
NM_206933.3:c.579T>G NP_996816.2:p.Gly193=
NM_007123.6:c.579T>G NP_009054.6:p.Gly193=
NM_206933.4:c.579T>G MANE Select NP_996816.3:p.Gly193=
Search 100 bp 5'
Search 100 bp 3'