Canonical Allele Identifier: CA1393880
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1600132
ClinVar RCV Id: RCV002132144
dbSNP Id: rs751350899
ExAC: 1:215953165 C / CT
gnomAD v2: 1-215953165-C-CT
gnomAD v3: 1-215779823-C-CT
gnomAD v4: 1-215779823-C-CT
MyVariant Identifiers: chr1:g.215953166_215953167insT (hg19) chr1:g.215953165_215953166insT (hg19) chr1:g.215779824_215779825insT (hg38) chr1:g.215779823_215779824insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215779832dup , CM000663.2:g.215779832dup GRCh38
NC_000001.10:g.215953174dup , CM000663.1:g.215953174dup GRCh37
NC_000001.9:g.214019797dup NCBI36
NG_009497.1:g.648573dup
NG_009497.2:g.648625dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10939+19dup MANE Select ENSP00000305941.3:n.10939+19dup
ENST00000674083.1:c.10939+19dup ENSP00000501296.1:n.10939+19dup
ENST00000307340.7:c.10939+19dup ENSP00000305941.3:n.10939+19dup
NM_206933.2:c.10939+19dup NP_996816.2:n.10939+19dup
NM_206933.3:c.10939+19dup NP_996816.2:n.10939+19dup
NM_206933.4:c.10939+19dup MANE Select NP_996816.3:n.10939+19dup
Search 100 bp 5'
Search 100 bp 3'