Canonical Allele Identifier: CA1220396674
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1659901595
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728593_215728594insGACACACA , CM000663.2:g.215728593_215728594insGACACACA GRCh38
NC_000001.10:g.215901935_215901936insGACACACA , CM000663.1:g.215901935_215901936insGACACACA GRCh37
NC_000001.9:g.213968558_213968559insGACACACA NCBI36
NG_009497.1:g.699810_699811insCTGTGTGT
NG_009497.2:g.699862_699863insCTGTGTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-203_11712-202insCTGTGTGT MANE Select ENSP00000305941.3:n.11712-203_11712-202insCTGTGTGT
ENST00000674083.1:c.11712-203_11712-202insCTGTGTGT ENSP00000501296.1:n.11712-203_11712-202insCTGTGTGT
ENST00000307340.7:c.11712-203_11712-202insCTGTGTGT ENSP00000305941.3:n.11712-203_11712-202insCTGTGTGT
NM_206933.2:c.11712-203_11712-202insCTGTGTGT NP_996816.2:n.11712-203_11712-202insCTGTGTGT
NM_206933.3:c.11712-203_11712-202insCTGTGTGT NP_996816.2:n.11712-203_11712-202insCTGTGTGT
NM_206933.4:c.11712-203_11712-202insCTGTGTGT MANE Select NP_996816.3:n.11712-203_11712-202insCTGTGTGT
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