Canonical Allele Identifier: CA2747724418
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215867274_215867275insAGA , CM000663.2:g.215867274_215867275insAGA GRCh38
NC_000001.10:g.216040616_216040617insAGA , CM000663.1:g.216040616_216040617insAGA GRCh37
NC_000001.9:g.214107239_214107240insAGA NCBI36
NG_009497.1:g.561122_561123insTCT
NG_009497.2:g.561174_561175insTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8682-105_8682-104insTCT MANE Select ENSP00000305941.3:n.8682-105_8682-104insTCT
ENST00000674083.1:c.8682-105_8682-104insTCT ENSP00000501296.1:n.8682-105_8682-104insTCT
ENST00000307340.7:c.8682-105_8682-104insTCT ENSP00000305941.3:n.8682-105_8682-104insTCT
NM_206933.2:c.8682-105_8682-104insTCT NP_996816.2:n.8682-105_8682-104insTCT
NM_206933.3:c.8682-105_8682-104insTCT NP_996816.2:n.8682-105_8682-104insTCT
NM_206933.4:c.8682-105_8682-104insTCT MANE Select NP_996816.3:n.8682-105_8682-104insTCT
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