Canonical Allele Identifier: CA1143715367
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215779663T= , CM000663.2:g.215779663T= GRCh38
NC_000001.10:g.215953005T= , CM000663.1:g.215953005T= GRCh37
NC_000001.9:g.214019628T= NCBI36
NG_009497.1:g.648734A=
NG_009497.2:g.648786A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10939+180A= MANE Select ENSP00000305941.3:n.10939+180A=
ENST00000674083.1:c.10939+180A= ENSP00000501296.1:n.10939+180A=
ENST00000307340.7:c.10939+180A= ENSP00000305941.3:n.10939+180A=
NM_206933.2:c.10939+180A= NP_996816.2:n.10939+180A=
NM_206933.3:c.10939+180A= NP_996816.2:n.10939+180A=
NM_206933.4:c.10939+180A= MANE Select NP_996816.3:n.10939+180A=
Search 100 bp 5'
Search 100 bp 3'