Canonical Allele Identifier: CA2747719078
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728425_215728426insAGA , CM000663.2:g.215728425_215728426insAGA GRCh38
NC_000001.10:g.215901767_215901768insAGA , CM000663.1:g.215901767_215901768insAGA GRCh37
NC_000001.9:g.213968390_213968391insAGA NCBI36
NG_009497.1:g.699971_699972insTCT
NG_009497.2:g.700023_700024insTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-42_11712-41insTCT MANE Select ENSP00000305941.3:n.11712-42_11712-41insTCT
ENST00000674083.1:c.11712-42_11712-41insTCT ENSP00000501296.1:n.11712-42_11712-41insTCT
ENST00000307340.7:c.11712-42_11712-41insTCT ENSP00000305941.3:n.11712-42_11712-41insTCT
NM_206933.2:c.11712-42_11712-41insTCT NP_996816.2:n.11712-42_11712-41insTCT
NM_206933.3:c.11712-42_11712-41insTCT NP_996816.2:n.11712-42_11712-41insTCT
NM_206933.4:c.11712-42_11712-41insTCT MANE Select NP_996816.3:n.11712-42_11712-41insTCT
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