Canonical Allele Identifier: CA913072829
Gene: USH2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.216420289_216420301del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216246947_216246959del , CM000663.2:g.216246947_216246959del GRCh38
NC_000001.10:g.216420289_216420301del , CM000663.1:g.216420289_216420301del GRCh37
NC_000001.9:g.214486912_214486924del NCBI36
NG_009497.1:g.181439_181451del
NG_009497.2:g.181491_181503del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2436_2448del MANE Select ENSP00000305941.3:p.Gly813AlafsTer?
ENST00000674083.1:c.2436_2448del ENSP00000501296.1:p.Gly813AlafsTer?
ENST00000307340.7:c.2436_2448del ENSP00000305941.3:p.Gly813AlafsTer?
ENST00000366942.3:c.2436_2448del ENSP00000355909.3:p.Gly813AlafsTer?
NM_007123.5:c.2436_2448del NP_009054.5:p.Gly813AlafsTer?
NM_206933.2:c.2436_2448del NP_996816.2:p.Gly813AlafsTer?
NM_206933.3:c.2436_2448del NP_996816.2:p.Gly813AlafsTer?
NM_007123.6:c.2436_2448del NP_009054.6:p.Gly813AlafsTer?
NM_206933.4:c.2436_2448del MANE Select NP_996816.3:p.Gly813AlafsTer?
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