Canonical Allele Identifier: CA2747724326
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215867163_215867164insACA , CM000663.2:g.215867163_215867164insACA GRCh38
NC_000001.10:g.216040505_216040506insACA , CM000663.1:g.216040505_216040506insACA GRCh37
NC_000001.9:g.214107128_214107129insACA NCBI36
NG_009497.1:g.561233_561234insTGT
NG_009497.2:g.561285_561286insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8688_8689insTGT MANE Select ENSP00000305941.3:p.Thr2896_Thr2897insCys
ENST00000674083.1:c.8688_8689insTGT ENSP00000501296.1:p.Thr2896_Thr2897insCys
ENST00000307340.7:c.8688_8689insTGT ENSP00000305941.3:p.Thr2896_Thr2897insCys
NM_206933.2:c.8688_8689insTGT NP_996816.2:p.Thr2896_Thr2897insCys
NM_206933.3:c.8688_8689insTGT NP_996816.2:p.Thr2896_Thr2897insCys
NM_206933.4:c.8688_8689insTGT MANE Select NP_996816.3:p.Thr2896_Thr2897insCys
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