Canonical Allele Identifier: CA2507773116
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216247022_216247023insG , CM000663.2:g.216247022_216247023insG GRCh38
NC_000001.10:g.216420364_216420365insG , CM000663.1:g.216420364_216420365insG GRCh37
NC_000001.9:g.214486987_214486988insG NCBI36
NG_009497.1:g.181374_181375insC
NG_009497.2:g.181426_181427insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2371_2372insC MANE Select ENSP00000305941.3:p.Asn791ThrfsTer3
ENST00000674083.1:c.2371_2372insC ENSP00000501296.1:p.Asn791ThrfsTer3
ENST00000307340.7:c.2371_2372insC ENSP00000305941.3:p.Asn791ThrfsTer3
ENST00000366942.3:c.2371_2372insC ENSP00000355909.3:p.Asn791ThrfsTer3
NM_007123.5:c.2371_2372insC NP_009054.5:p.Asn791ThrfsTer3
NM_206933.2:c.2371_2372insC NP_996816.2:p.Asn791ThrfsTer3
NM_206933.3:c.2371_2372insC NP_996816.2:p.Asn791ThrfsTer3
NM_007123.6:c.2371_2372insC NP_009054.6:p.Asn791ThrfsTer3
NM_206933.4:c.2371_2372insC MANE Select NP_996816.3:p.Asn791ThrfsTer3
Search 100 bp 5'
Search 100 bp 3'