Canonical Allele Identifier: CA423308768
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2785778
ClinVar RCV Id: RCV003664575
gnomAD v4: 1-215817069-C-T
MyVariant Identifiers: chr1:g.215990411C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215817069C>T , CM000663.2:g.215817069C>T GRCh38
NC_000001.10:g.215990411C>T , CM000663.1:g.215990411C>T GRCh37
NC_000001.9:g.214057034C>T NCBI36
NG_009497.1:g.611328G>A
NG_009497.2:g.611380G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9498G>A MANE Select ENSP00000305941.3:p.Glu3166=
ENST00000674083.1:c.9498G>A ENSP00000501296.1:p.Glu3166=
ENST00000307340.7:c.9498G>A ENSP00000305941.3:p.Glu3166=
NM_206933.2:c.9498G>A NP_996816.2:p.Glu3166=
NM_206933.3:c.9498G>A NP_996816.2:p.Glu3166=
NM_206933.4:c.9498G>A MANE Select NP_996816.3:p.Glu3166=
Search 100 bp 5'
Search 100 bp 3'