Canonical Allele Identifier: CA2747717697
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675647_215675648insAGA , CM000663.2:g.215675647_215675648insAGA GRCh38
NC_000001.10:g.215848989_215848990insAGA , CM000663.1:g.215848989_215848990insAGA GRCh37
NC_000001.9:g.213915612_213915613insAGA NCBI36
NG_009497.1:g.752749_752750insTCT
NG_009497.2:g.752801_752802insTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12295-32_12295-31insTCT MANE Select ENSP00000305941.3:n.12295-32_12295-31insTCT
ENST00000674083.1:c.12295-32_12295-31insTCT ENSP00000501296.1:n.12295-32_12295-31insTCT
ENST00000307340.7:c.12295-32_12295-31insTCT ENSP00000305941.3:n.12295-32_12295-31insTCT
NM_206933.2:c.12295-32_12295-31insTCT NP_996816.2:n.12295-32_12295-31insTCT
NM_206933.3:c.12295-32_12295-31insTCT NP_996816.2:n.12295-32_12295-31insTCT
NM_206933.4:c.12295-32_12295-31insTCT MANE Select NP_996816.3:n.12295-32_12295-31insTCT
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