Canonical Allele Identifier: CA2747719154
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728511_215728512insACA , CM000663.2:g.215728511_215728512insACA GRCh38
NC_000001.10:g.215901853_215901854insACA , CM000663.1:g.215901853_215901854insACA GRCh37
NC_000001.9:g.213968476_213968477insACA NCBI36
NG_009497.1:g.699885_699886insTGT
NG_009497.2:g.699937_699938insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-128_11712-127insTGT MANE Select ENSP00000305941.3:n.11712-128_11712-127insTGT
ENST00000674083.1:c.11712-128_11712-127insTGT ENSP00000501296.1:n.11712-128_11712-127insTGT
ENST00000307340.7:c.11712-128_11712-127insTGT ENSP00000305941.3:n.11712-128_11712-127insTGT
NM_206933.2:c.11712-128_11712-127insTGT NP_996816.2:n.11712-128_11712-127insTGT
NM_206933.3:c.11712-128_11712-127insTGT NP_996816.2:n.11712-128_11712-127insTGT
NM_206933.4:c.11712-128_11712-127insTGT MANE Select NP_996816.3:n.11712-128_11712-127insTGT
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