Canonical Allele Identifier: CA1139656545
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 917733
ClinVar RCV Id: RCV001174953
dbSNP Id: rs1657929865
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215674446_215674447insAC , CM000663.2:g.215674446_215674447insAC GRCh38
NC_000001.10:g.215847788_215847789insAC , CM000663.1:g.215847788_215847789insAC GRCh37
NC_000001.9:g.213914411_213914412insAC NCBI36
NG_009497.1:g.753951_753952insTG
NG_009497.2:g.754003_754004insTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.13465_13466insTG MANE Select ENSP00000305941.3:p.Gly4489ValfsTer22
ENST00000674083.1:c.13465_13466insTG ENSP00000501296.1:p.Gly4489ValfsTer22
ENST00000307340.7:c.13465_13466insTG ENSP00000305941.3:p.Gly4489ValfsTer22
NM_206933.2:c.13465_13466insTG NP_996816.2:p.Gly4489ValfsTer22
NM_206933.3:c.13465_13466insTG NP_996816.2:p.Gly4489ValfsTer22
NM_206933.4:c.13465_13466insTG MANE Select NP_996816.3:p.Gly4489ValfsTer22
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