Canonical Allele Identifier: CA658822644
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 552713
ClinVar RCV Id: RCV000668024
dbSNP Id: rs1553252489
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675173_215675174delinsCC , CM000663.2:g.215675173_215675174delinsCC GRCh38
NC_000001.10:g.215848515_215848516delinsCC , CM000663.1:g.215848515_215848516delinsCC GRCh37
NC_000001.9:g.213915138_213915139delinsCC NCBI36
NG_009497.1:g.753223_753224delinsGG
NG_009497.2:g.753275_753276delinsGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12737_12738delinsGG MANE Select ENSP00000305941.3:p.Ala4246Gly
ENST00000674083.1:c.12737_12738delinsGG ENSP00000501296.1:p.Ala4246Gly
ENST00000307340.7:c.12737_12738delinsGG ENSP00000305941.3:p.Ala4246Gly
NM_206933.2:c.12737_12738delinsGG NP_996816.2:p.Ala4246Gly
NM_206933.3:c.12737_12738delinsGG NP_996816.2:p.Ala4246Gly
NM_206933.4:c.12737_12738delinsGG MANE Select NP_996816.3:p.Ala4246Gly
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