Canonical Allele Identifier: CA2650503221
Gene: USH2A HGNC NCBI

Linked Data

gnomAD v4: 1-215799090-C-CT
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215799090_215799091insT , CM000663.2:g.215799090_215799091insT GRCh38
NC_000001.10:g.215972432_215972433insT , CM000663.1:g.215972432_215972433insT GRCh37
NC_000001.9:g.214039055_214039056insT NCBI36
NG_009497.1:g.629306_629307insA
NG_009497.2:g.629358_629359insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9774_9775insA MANE Select ENSP00000305941.3:p.Val3259SerfsTer7
ENST00000674083.1:c.9774_9775insA ENSP00000501296.1:p.Val3259SerfsTer7
ENST00000307340.7:c.9774_9775insA ENSP00000305941.3:p.Val3259SerfsTer7
NM_206933.2:c.9774_9775insA NP_996816.2:p.Val3259SerfsTer7
NM_206933.3:c.9774_9775insA NP_996816.2:p.Val3259SerfsTer7
NM_206933.4:c.9774_9775insA MANE Select NP_996816.3:p.Val3259SerfsTer7
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