Canonical Allele Identifier: CA2747724429
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215867297_215867298insACA , CM000663.2:g.215867297_215867298insACA GRCh38
NC_000001.10:g.216040639_216040640insACA , CM000663.1:g.216040639_216040640insACA GRCh37
NC_000001.9:g.214107262_214107263insACA NCBI36
NG_009497.1:g.561099_561100insTGT
NG_009497.2:g.561151_561152insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8682-128_8682-127insTGT MANE Select ENSP00000305941.3:n.8682-128_8682-127insTGT
ENST00000674083.1:c.8682-128_8682-127insTGT ENSP00000501296.1:n.8682-128_8682-127insTGT
ENST00000307340.7:c.8682-128_8682-127insTGT ENSP00000305941.3:n.8682-128_8682-127insTGT
NM_206933.2:c.8682-128_8682-127insTGT NP_996816.2:n.8682-128_8682-127insTGT
NM_206933.3:c.8682-128_8682-127insTGT NP_996816.2:n.8682-128_8682-127insTGT
NM_206933.4:c.8682-128_8682-127insTGT MANE Select NP_996816.3:n.8682-128_8682-127insTGT
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