Canonical Allele Identifier: CA1395712
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 550873
ClinVar RCV Id: RCV000665749 RCV001075029 RCV001205806 RCV001835072 RCV003420173 RCV003446295
dbSNP Id: rs199982344
ExAC: 1:216348825 C / T
gnomAD v2: 1-216348825-C-T
gnomAD v3: 1-216175483-C-T
gnomAD v4: 1-216175483-C-T
MyVariant Identifiers: chr1:g.216348825C>T (hg19) chr1:g.216175483C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216175483C>T , CM000663.2:g.216175483C>T GRCh38
NC_000001.10:g.216348825C>T , CM000663.1:g.216348825C>T GRCh37
NC_000001.9:g.214415448C>T NCBI36
NG_009497.1:g.252914G>A
NG_009497.2:g.252966G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.4397-1G>A MANE Select ENSP00000305941.3:n.4397-1G>A
ENST00000674083.1:c.4397-1G>A ENSP00000501296.1:n.4397-1G>A
ENST00000307340.7:c.4397-1G>A ENSP00000305941.3:n.4397-1G>A
ENST00000366942.3:c.4397-1G>A ENSP00000355909.3:n.4397-1G>A
NM_007123.5:c.4397-1G>A NP_009054.5:n.4397-1G>A
NM_206933.2:c.4397-1G>A NP_996816.2:n.4397-1G>A
NM_206933.3:c.4397-1G>A NP_996816.2:n.4397-1G>A
NM_007123.6:c.4397-1G>A NP_009054.6:n.4397-1G>A
NM_206933.4:c.4397-1G>A MANE Select NP_996816.3:n.4397-1G>A
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