Canonical Allele Identifier: CA2747717730
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675686_215675687insAGAA , CM000663.2:g.215675686_215675687insAGAA GRCh38
NC_000001.10:g.215849028_215849029insAGAA , CM000663.1:g.215849028_215849029insAGAA GRCh37
NC_000001.9:g.213915651_213915652insAGAA NCBI36
NG_009497.1:g.752710_752711insTTCT
NG_009497.2:g.752762_752763insTTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12295-71_12295-70insTTCT MANE Select ENSP00000305941.3:n.12295-71_12295-70insTTCT
ENST00000674083.1:c.12295-71_12295-70insTTCT ENSP00000501296.1:n.12295-71_12295-70insTTCT
ENST00000307340.7:c.12295-71_12295-70insTTCT ENSP00000305941.3:n.12295-71_12295-70insTTCT
NM_206933.2:c.12295-71_12295-70insTTCT NP_996816.2:n.12295-71_12295-70insTTCT
NM_206933.3:c.12295-71_12295-70insTTCT NP_996816.2:n.12295-71_12295-70insTTCT
NM_206933.4:c.12295-71_12295-70insTTCT MANE Select NP_996816.3:n.12295-71_12295-70insTTCT
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