Canonical Allele Identifier: CA2534219804
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675235_215675236insGT , CM000663.2:g.215675235_215675236insGT GRCh38
NC_000001.10:g.215848577_215848578insGT , CM000663.1:g.215848577_215848578insGT GRCh37
NC_000001.9:g.213915200_213915201insGT NCBI36
NG_009497.1:g.753162_753163insCA
NG_009497.2:g.753214_753215insCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12676_12677insCA MANE Select ENSP00000305941.3:p.Asn4226ThrfsTer?
ENST00000674083.1:c.12676_12677insCA ENSP00000501296.1:p.Asn4226ThrfsTer?
ENST00000307340.7:c.12676_12677insCA ENSP00000305941.3:p.Asn4226ThrfsTer?
NM_206933.2:c.12676_12677insCA NP_996816.2:p.Asn4226ThrfsTer?
NM_206933.3:c.12676_12677insCA NP_996816.2:p.Asn4226ThrfsTer?
NM_206933.4:c.12676_12677insCA MANE Select NP_996816.3:p.Asn4226ThrfsTer?
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