Canonical Allele Identifier: CA1220434284
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215816980A= , CM000663.2:g.215816980A= GRCh38
NC_000001.10:g.215990322A= , CM000663.1:g.215990322A= GRCh37
NC_000001.9:g.214056945A= NCBI36
NG_009497.1:g.611417T=
NG_009497.2:g.611469T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9570+17T= MANE Select ENSP00000305941.3:n.9570+17T=
ENST00000674083.1:c.9570+17T= ENSP00000501296.1:n.9570+17T=
ENST00000307340.7:c.9570+17T= ENSP00000305941.3:n.9570+17T=
NM_206933.2:c.9570+17T= NP_996816.2:n.9570+17T=
NM_206933.3:c.9570+17T= NP_996816.2:n.9570+17T=
NM_206933.4:c.9570+17T= MANE Select NP_996816.3:n.9570+17T=
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