Canonical Allele Identifier: CA2747717738
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675697_215675698insAGT , CM000663.2:g.215675697_215675698insAGT GRCh38
NC_000001.10:g.215849039_215849040insAGT , CM000663.1:g.215849039_215849040insAGT GRCh37
NC_000001.9:g.213915662_213915663insAGT NCBI36
NG_009497.1:g.752699_752700insACT
NG_009497.2:g.752751_752752insACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12295-82_12295-81insACT MANE Select ENSP00000305941.3:n.12295-82_12295-81insACT
ENST00000674083.1:c.12295-82_12295-81insACT ENSP00000501296.1:n.12295-82_12295-81insACT
ENST00000307340.7:c.12295-82_12295-81insACT ENSP00000305941.3:n.12295-82_12295-81insACT
NM_206933.2:c.12295-82_12295-81insACT NP_996816.2:n.12295-82_12295-81insACT
NM_206933.3:c.12295-82_12295-81insACT NP_996816.2:n.12295-82_12295-81insACT
NM_206933.4:c.12295-82_12295-81insACT MANE Select NP_996816.3:n.12295-82_12295-81insACT
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