Canonical Allele Identifier: CA1393573
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 763807
ClinVar RCV Id: RCV000942086
dbSNP Id: rs755924483
ExAC: 1:215901393 G / T
gnomAD v2: 1-215901393-G-T
gnomAD v4: 1-215728051-G-T
MyVariant Identifiers: chr1:g.215901393G>T (hg19) chr1:g.215728051G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728051G>T , CM000663.2:g.215728051G>T GRCh38
NC_000001.10:g.215901393G>T , CM000663.1:g.215901393G>T GRCh37
NC_000001.9:g.213968016G>T NCBI36
NG_009497.1:g.700346C>A
NG_009497.2:g.700398C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12045C>A MANE Select ENSP00000305941.3:p.Thr4015=
ENST00000674083.1:c.12045C>A ENSP00000501296.1:p.Thr4015=
ENST00000307340.7:c.12045C>A ENSP00000305941.3:p.Thr4015=
NM_206933.2:c.12045C>A NP_996816.2:p.Thr4015=
NM_206933.3:c.12045C>A NP_996816.2:p.Thr4015=
NM_206933.4:c.12045C>A MANE Select NP_996816.3:p.Thr4015=
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