Canonical Allele Identifier: CA2747724408
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215867260_215867261insACAC , CM000663.2:g.215867260_215867261insACAC GRCh38
NC_000001.10:g.216040602_216040603insACAC , CM000663.1:g.216040602_216040603insACAC GRCh37
NC_000001.9:g.214107225_214107226insACAC NCBI36
NG_009497.1:g.561136_561137insGTGT
NG_009497.2:g.561188_561189insGTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8682-91_8682-90insGTGT MANE Select ENSP00000305941.3:n.8682-91_8682-90insGTGT
ENST00000674083.1:c.8682-91_8682-90insGTGT ENSP00000501296.1:n.8682-91_8682-90insGTGT
ENST00000307340.7:c.8682-91_8682-90insGTGT ENSP00000305941.3:n.8682-91_8682-90insGTGT
NM_206933.2:c.8682-91_8682-90insGTGT NP_996816.2:n.8682-91_8682-90insGTGT
NM_206933.3:c.8682-91_8682-90insGTGT NP_996816.2:n.8682-91_8682-90insGTGT
NM_206933.4:c.8682-91_8682-90insGTGT MANE Select NP_996816.3:n.8682-91_8682-90insGTGT
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