Canonical Allele Identifier: CA645523114
Gene: USH2A HGNC NCBI

Linked Data

COSMIC: COSM5457509 COSM5457510
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215867070_215867071insCT , CM000663.2:g.215867070_215867071insCT GRCh38
NC_000001.10:g.216040412_216040413insCT , CM000663.1:g.216040412_216040413insCT GRCh37
NC_000001.9:g.214107035_214107036insCT NCBI36
NG_009497.1:g.561326_561327insAG
NG_009497.2:g.561378_561379insAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8781_8782insAG MANE Select ENSP00000305941.3:p.Gly2928ArgfsTer17
ENST00000674083.1:c.8781_8782insAG ENSP00000501296.1:p.Gly2928ArgfsTer17
ENST00000307340.7:c.8781_8782insAG ENSP00000305941.3:p.Gly2928ArgfsTer17
NM_206933.2:c.8781_8782insAG NP_996816.2:p.Gly2928ArgfsTer17
NM_206933.3:c.8781_8782insAG NP_996816.2:p.Gly2928ArgfsTer17
NM_206933.4:c.8781_8782insAG MANE Select NP_996816.3:p.Gly2928ArgfsTer17
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Search 100 bp 3'