Canonical Allele Identifier: CA344834452
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1306306
ClinVar RCV Id: RCV001767259
dbSNP Id: rs2102760750
gnomAD v4: 1-215780028-G-A
MyVariant Identifiers: chr1:g.215953370G>A (hg19) chr1:g.215780028G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215780028G>A , CM000663.2:g.215780028G>A GRCh38
NC_000001.10:g.215953370G>A , CM000663.1:g.215953370G>A GRCh37
NC_000001.9:g.214019993G>A NCBI36
NG_009497.1:g.648369C>T
NG_009497.2:g.648421C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10754C>T MANE Select ENSP00000305941.3:p.Thr3585Ile
ENST00000674083.1:c.10754C>T ENSP00000501296.1:p.Thr3585Ile
ENST00000307340.7:c.10754C>T ENSP00000305941.3:p.Thr3585Ile
NM_206933.2:c.10754C>T NP_996816.2:p.Thr3585Ile
NM_206933.3:c.10754C>T NP_996816.2:p.Thr3585Ile
NM_206933.4:c.10754C>T MANE Select NP_996816.3:p.Thr3585Ile
Search 100 bp 5'
Search 100 bp 3'