Canonical Allele Identifier: CA2747724375
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215867243_215867244insACAG , CM000663.2:g.215867243_215867244insACAG GRCh38
NC_000001.10:g.216040585_216040586insACAG , CM000663.1:g.216040585_216040586insACAG GRCh37
NC_000001.9:g.214107208_214107209insACAG NCBI36
NG_009497.1:g.561153_561154insCTGT
NG_009497.2:g.561205_561206insCTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8682-74_8682-73insCTGT MANE Select ENSP00000305941.3:n.8682-74_8682-73insCTGT
ENST00000674083.1:c.8682-74_8682-73insCTGT ENSP00000501296.1:n.8682-74_8682-73insCTGT
ENST00000307340.7:c.8682-74_8682-73insCTGT ENSP00000305941.3:n.8682-74_8682-73insCTGT
NM_206933.2:c.8682-74_8682-73insCTGT NP_996816.2:n.8682-74_8682-73insCTGT
NM_206933.3:c.8682-74_8682-73insCTGT NP_996816.2:n.8682-74_8682-73insCTGT
NM_206933.4:c.8682-74_8682-73insCTGT MANE Select NP_996816.3:n.8682-74_8682-73insCTGT
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