Canonical Allele Identifier: CA423429683
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 3028666
ClinVar RCV Id: RCV003890531
gnomAD v3: 1-215680173-A-G
gnomAD v4: 1-215680173-A-G
MyVariant Identifiers: chr1:g.215853515A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215680173A>G , CM000663.2:g.215680173A>G GRCh38
NC_000001.10:g.215853515A>G , CM000663.1:g.215853515A>G GRCh37
NC_000001.9:g.213920138A>G NCBI36
NG_009497.1:g.748224T>C
NG_009497.2:g.748276T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12270T>C MANE Select ENSP00000305941.3:p.Pro4090=
ENST00000674083.1:c.12270T>C ENSP00000501296.1:p.Pro4090=
ENST00000307340.7:c.12270T>C ENSP00000305941.3:p.Pro4090=
NM_206933.2:c.12270T>C NP_996816.2:p.Pro4090=
NM_206933.3:c.12270T>C NP_996816.2:p.Pro4090=
NM_206933.4:c.12270T>C MANE Select NP_996816.3:p.Pro4090=
Search 100 bp 5'
Search 100 bp 3'