Canonical Allele Identifier: CA1220434282
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215816977A= , CM000663.2:g.215816977A= GRCh38
NC_000001.10:g.215990319A= , CM000663.1:g.215990319A= GRCh37
NC_000001.9:g.214056942A= NCBI36
NG_009497.1:g.611420T=
NG_009497.2:g.611472T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9570+20T= MANE Select ENSP00000305941.3:n.9570+20T=
ENST00000674083.1:c.9570+20T= ENSP00000501296.1:n.9570+20T=
ENST00000307340.7:c.9570+20T= ENSP00000305941.3:n.9570+20T=
NM_206933.2:c.9570+20T= NP_996816.2:n.9570+20T=
NM_206933.3:c.9570+20T= NP_996816.2:n.9570+20T=
NM_206933.4:c.9570+20T= MANE Select NP_996816.3:n.9570+20T=
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