Canonical Allele Identifier: CA2747717685
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675639_215675640insACT , CM000663.2:g.215675639_215675640insACT GRCh38
NC_000001.10:g.215848981_215848982insACT , CM000663.1:g.215848981_215848982insACT GRCh37
NC_000001.9:g.213915604_213915605insACT NCBI36
NG_009497.1:g.752757_752758insAGT
NG_009497.2:g.752809_752810insAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12295-24_12295-23insAGT MANE Select ENSP00000305941.3:n.12295-24_12295-23insAGT
ENST00000674083.1:c.12295-24_12295-23insAGT ENSP00000501296.1:n.12295-24_12295-23insAGT
ENST00000307340.7:c.12295-24_12295-23insAGT ENSP00000305941.3:n.12295-24_12295-23insAGT
NM_206933.2:c.12295-24_12295-23insAGT NP_996816.2:n.12295-24_12295-23insAGT
NM_206933.3:c.12295-24_12295-23insAGT NP_996816.2:n.12295-24_12295-23insAGT
NM_206933.4:c.12295-24_12295-23insAGT MANE Select NP_996816.3:n.12295-24_12295-23insAGT
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