Canonical Allele Identifier: CA2558290317
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675561_215675562insG , CM000663.2:g.215675561_215675562insG GRCh38
NC_000001.10:g.215848903_215848904insG , CM000663.1:g.215848903_215848904insG GRCh37
NC_000001.9:g.213915526_213915527insG NCBI36
NG_009497.1:g.752835_752836insC
NG_009497.2:g.752887_752888insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12349_12350insC MANE Select ENSP00000305941.3:p.Phe4117SerfsTer?
ENST00000674083.1:c.12349_12350insC ENSP00000501296.1:p.Phe4117SerfsTer?
ENST00000307340.7:c.12349_12350insC ENSP00000305941.3:p.Phe4117SerfsTer?
NM_206933.2:c.12349_12350insC NP_996816.2:p.Phe4117SerfsTer?
NM_206933.3:c.12349_12350insC NP_996816.2:p.Phe4117SerfsTer?
NM_206933.4:c.12349_12350insC MANE Select NP_996816.3:p.Phe4117SerfsTer?
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