Canonical Allele Identifier: CA2747717699
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675651_215675652insCAG , CM000663.2:g.215675651_215675652insCAG GRCh38
NC_000001.10:g.215848993_215848994insCAG , CM000663.1:g.215848993_215848994insCAG GRCh37
NC_000001.9:g.213915616_213915617insCAG NCBI36
NG_009497.1:g.752745_752746insCTG
NG_009497.2:g.752797_752798insCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12295-36_12295-35insCTG MANE Select ENSP00000305941.3:n.12295-36_12295-35insCTG
ENST00000674083.1:c.12295-36_12295-35insCTG ENSP00000501296.1:n.12295-36_12295-35insCTG
ENST00000307340.7:c.12295-36_12295-35insCTG ENSP00000305941.3:n.12295-36_12295-35insCTG
NM_206933.2:c.12295-36_12295-35insCTG NP_996816.2:n.12295-36_12295-35insCTG
NM_206933.3:c.12295-36_12295-35insCTG NP_996816.2:n.12295-36_12295-35insCTG
NM_206933.4:c.12295-36_12295-35insCTG MANE Select NP_996816.3:n.12295-36_12295-35insCTG
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