Canonical Allele Identifier: CA2747717709
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675665_215675666insACA , CM000663.2:g.215675665_215675666insACA GRCh38
NC_000001.10:g.215849007_215849008insACA , CM000663.1:g.215849007_215849008insACA GRCh37
NC_000001.9:g.213915630_213915631insACA NCBI36
NG_009497.1:g.752731_752732insTGT
NG_009497.2:g.752783_752784insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12295-50_12295-49insTGT MANE Select ENSP00000305941.3:n.12295-50_12295-49insTGT
ENST00000674083.1:c.12295-50_12295-49insTGT ENSP00000501296.1:n.12295-50_12295-49insTGT
ENST00000307340.7:c.12295-50_12295-49insTGT ENSP00000305941.3:n.12295-50_12295-49insTGT
NM_206933.2:c.12295-50_12295-49insTGT NP_996816.2:n.12295-50_12295-49insTGT
NM_206933.3:c.12295-50_12295-49insTGT NP_996816.2:n.12295-50_12295-49insTGT
NM_206933.4:c.12295-50_12295-49insTGT MANE Select NP_996816.3:n.12295-50_12295-49insTGT
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