Canonical Allele Identifier: CA529002414
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2902603
ClinVar RCV Id: RCV003733844
dbSNP Id: rs1411515850
gnomAD v2: 1-215990326-A-G
gnomAD v4: 1-215816984-A-G
MyVariant Identifiers: chr1:g.215990326A>G (hg19) chr1:g.215816984A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215816984A>G , CM000663.2:g.215816984A>G GRCh38
NC_000001.10:g.215990326A>G , CM000663.1:g.215990326A>G GRCh37
NC_000001.9:g.214056949A>G NCBI36
NG_009497.1:g.611413T>C
NG_009497.2:g.611465T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9570+13T>C MANE Select ENSP00000305941.3:n.9570+13T>C
ENST00000674083.1:c.9570+13T>C ENSP00000501296.1:n.9570+13T>C
ENST00000307340.7:c.9570+13T>C ENSP00000305941.3:n.9570+13T>C
NM_206933.2:c.9570+13T>C NP_996816.2:n.9570+13T>C
NM_206933.3:c.9570+13T>C NP_996816.2:n.9570+13T>C
NM_206933.4:c.9570+13T>C MANE Select NP_996816.3:n.9570+13T>C
Search 100 bp 5'
Search 100 bp 3'