Canonical Allele Identifier: CA143623
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48598
ClinVar RCV Id: RCV000041924 RCV000490269 RCV000665134 RCV000937215 RCV001579280 RCV003888409
dbSNP Id: rs143240767
ExAC: 1:216052322 G / A
gnomAD v2: 1-216052322-G-A
gnomAD v3: 1-215878980-G-A
gnomAD v4: 1-215878980-G-A
MyVariant Identifiers: chr1:g.216052322G>A (hg19) chr1:g.215878980G>A (hg38)
PubMed: PMID:23767834
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215878980G>A , CM000663.2:g.215878980G>A GRCh38
NC_000001.10:g.216052322G>A , CM000663.1:g.216052322G>A GRCh37
NC_000001.9:g.214118945G>A NCBI36
NG_009497.1:g.549417C>T
NG_009497.2:g.549469C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.8342C>T MANE Select ENSP00000305941.3:p.Thr2781Ile
ENST00000674083.1:c.8342C>T ENSP00000501296.1:p.Thr2781Ile
ENST00000307340.7:c.8342C>T ENSP00000305941.3:p.Thr2781Ile
NM_206933.2:c.8342C>T NP_996816.2:p.Thr2781Ile
NM_206933.3:c.8342C>T NP_996816.2:p.Thr2781Ile
NM_206933.4:c.8342C>T MANE Select NP_996816.3:p.Thr2781Ile
Search 100 bp 5'
Search 100 bp 3'