Canonical Allele Identifier: CA1393425
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2145950
ClinVar RCV Id: RCV003074315
dbSNP Id: rs779707651
ExAC: 1:215848570 G / A
gnomAD v2: 1-215848570-G-A
gnomAD v4: 1-215675228-G-A
MyVariant Identifiers: chr1:g.215848570G>A (hg19) chr1:g.215675228G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675228G>A , CM000663.2:g.215675228G>A GRCh38
NC_000001.10:g.215848570G>A , CM000663.1:g.215848570G>A GRCh37
NC_000001.9:g.213915193G>A NCBI36
NG_009497.1:g.753169C>T
NG_009497.2:g.753221C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12683C>T MANE Select ENSP00000305941.3:p.Thr4228Ile
ENST00000674083.1:c.12683C>T ENSP00000501296.1:p.Thr4228Ile
ENST00000307340.7:c.12683C>T ENSP00000305941.3:p.Thr4228Ile
NM_206933.2:c.12683C>T NP_996816.2:p.Thr4228Ile
NM_206933.3:c.12683C>T NP_996816.2:p.Thr4228Ile
NM_206933.4:c.12683C>T MANE Select NP_996816.3:p.Thr4228Ile
Search 100 bp 5'
Search 100 bp 3'