Canonical Allele Identifier: CA1220414132
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215779620G= , CM000663.2:g.215779620G= GRCh38
NC_000001.10:g.215952962G= , CM000663.1:g.215952962G= GRCh37
NC_000001.9:g.214019585G= NCBI36
NG_009497.1:g.648777C=
NG_009497.2:g.648829C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10939+223C= MANE Select ENSP00000305941.3:n.10939+223C=
ENST00000674083.1:c.10939+223C= ENSP00000501296.1:n.10939+223C=
ENST00000307340.7:c.10939+223C= ENSP00000305941.3:n.10939+223C=
NM_206933.2:c.10939+223C= NP_996816.2:n.10939+223C=
NM_206933.3:c.10939+223C= NP_996816.2:n.10939+223C=
NM_206933.4:c.10939+223C= MANE Select NP_996816.3:n.10939+223C=
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