Canonical Allele Identifier: CA529002306
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1170058
ClinVar RCV Id: RCV001522048
dbSNP Id: rs1226212384
gnomAD v2: 1-215972240-GC-G
gnomAD v4: 1-215798898-GC-G
MyVariant Identifiers: chr1:g.215972241del (hg19) chr1:g.215798899del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215798902del , CM000663.2:g.215798902del GRCh38
NC_000001.10:g.215972244del , CM000663.1:g.215972244del GRCh37
NC_000001.9:g.214038867del NCBI36
NG_009497.1:g.629498del
NG_009497.2:g.629550del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9958+8del MANE Select ENSP00000305941.3:n.9958+8del
ENST00000674083.1:c.9958+8del ENSP00000501296.1:n.9958+8del
ENST00000307340.7:c.9958+8del ENSP00000305941.3:n.9958+8del
NM_206933.2:c.9958+8del NP_996816.2:n.9958+8del
NM_206933.3:c.9958+8del NP_996816.2:n.9958+8del
NM_206933.4:c.9958+8del MANE Select NP_996816.3:n.9958+8del
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