Canonical Allele Identifier: CA2747724422
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215867277_215867278insAGA , CM000663.2:g.215867277_215867278insAGA GRCh38
NC_000001.10:g.216040619_216040620insAGA , CM000663.1:g.216040619_216040620insAGA GRCh37
NC_000001.9:g.214107242_214107243insAGA NCBI36
NG_009497.1:g.561119_561120insTCT
NG_009497.2:g.561171_561172insTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8682-108_8682-107insTCT MANE Select ENSP00000305941.3:n.8682-108_8682-107insTCT
ENST00000674083.1:c.8682-108_8682-107insTCT ENSP00000501296.1:n.8682-108_8682-107insTCT
ENST00000307340.7:c.8682-108_8682-107insTCT ENSP00000305941.3:n.8682-108_8682-107insTCT
NM_206933.2:c.8682-108_8682-107insTCT NP_996816.2:n.8682-108_8682-107insTCT
NM_206933.3:c.8682-108_8682-107insTCT NP_996816.2:n.8682-108_8682-107insTCT
NM_206933.4:c.8682-108_8682-107insTCT MANE Select NP_996816.3:n.8682-108_8682-107insTCT
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