Canonical Allele Identifier: CA2747719129
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728480_215728481insCT , CM000663.2:g.215728480_215728481insCT GRCh38
NC_000001.10:g.215901822_215901823insCT , CM000663.1:g.215901822_215901823insCT GRCh37
NC_000001.9:g.213968445_213968446insCT NCBI36
NG_009497.1:g.699916_699917insAG
NG_009497.2:g.699968_699969insAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-97_11712-96insAG MANE Select ENSP00000305941.3:n.11712-97_11712-96insAG
ENST00000674083.1:c.11712-97_11712-96insAG ENSP00000501296.1:n.11712-97_11712-96insAG
ENST00000307340.7:c.11712-97_11712-96insAG ENSP00000305941.3:n.11712-97_11712-96insAG
NM_206933.2:c.11712-97_11712-96insAG NP_996816.2:n.11712-97_11712-96insAG
NM_206933.3:c.11712-97_11712-96insAG NP_996816.2:n.11712-97_11712-96insAG
NM_206933.4:c.11712-97_11712-96insAG MANE Select NP_996816.3:n.11712-97_11712-96insAG
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