Canonical Allele Identifier: CA1220414788
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215780040_215780041delinsAC , CM000663.2:g.215780040_215780041delinsAC GRCh38
NC_000001.10:g.215953382_215953383delinsAC , CM000663.1:g.215953382_215953383delinsAC GRCh37
NC_000001.9:g.214020005_214020006delinsAC NCBI36
NG_009497.1:g.648356_648357delinsGT
NG_009497.2:g.648408_648409delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10741_10742delinsGT MANE Select ENSP00000305941.3:p.Val3581=
ENST00000674083.1:c.10741_10742delinsGT ENSP00000501296.1:p.Val3581=
ENST00000307340.7:c.10741_10742delinsGT ENSP00000305941.3:p.Val3581=
NM_206933.2:c.10741_10742delinsGT NP_996816.2:p.Val3581=
NM_206933.3:c.10741_10742delinsGT NP_996816.2:p.Val3581=
NM_206933.4:c.10741_10742delinsGT MANE Select NP_996816.3:p.Val3581=
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