Canonical Allele Identifier: CA143372
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48448
ClinVar RCV Id: RCV000041771 RCV000975530 RCV003450799 RCV003450800
dbSNP Id: rs397517993
ExAC: 1:215813967 G / A
gnomAD v2: 1-215813967-G-A
gnomAD v3: 1-215640625-G-A
gnomAD v4: 1-215640625-G-A
MyVariant Identifiers: chr1:g.215813967G>A (hg19) chr1:g.215813967_215813975delinsAGTTAACAC (hg19) chr1:g.215640625G>A (hg38) chr1:g.215640625_215640633delinsAGTTAACAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215640625G>A , CM000663.2:g.215640625G>A GRCh38
NC_000001.10:g.215813967G>A , CM000663.1:g.215813967G>A GRCh37
NC_000001.9:g.213880590G>A NCBI36
NG_009497.1:g.787772C>T
NG_009497.2:g.787824C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.14901C>T MANE Select ENSP00000305941.3:p.Thr4967=
ENST00000674083.1:c.14901C>T ENSP00000501296.1:p.Thr4967=
ENST00000307340.7:c.14901C>T ENSP00000305941.3:p.Thr4967=
NM_206933.2:c.14901C>T NP_996816.2:p.Thr4967=
NM_206933.3:c.14901C>T NP_996816.2:p.Thr4967=
NM_206933.4:c.14901C>T MANE Select NP_996816.3:p.Thr4967=
Search 100 bp 5'
Search 100 bp 3'