Canonical Allele Identifier: CA529002047
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2679540
ClinVar RCV Id: RCV003464832
dbSNP Id: rs1558033881
gnomAD v2: 1-215813967-GGTTAACAC-G
gnomAD v4: 1-215640625-GGTTAACAC-G
MyVariant Identifiers: chr1:g.215813968_215813975del (hg19) chr1:g.215640626_215640633del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215640628_215640635del , CM000663.2:g.215640628_215640635del GRCh38
NC_000001.10:g.215813970_215813977del , CM000663.1:g.215813970_215813977del GRCh37
NC_000001.9:g.213880593_213880600del NCBI36
NG_009497.1:g.787764_787771del
NG_009497.2:g.787816_787823del

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.14893_14900del MANE Select ENSP00000305941.3:p.Val4965ArgfsTer?
ENST00000674083.1:c.14893_14900del ENSP00000501296.1:p.Val4965ArgfsTer?
ENST00000307340.7:c.14893_14900del ENSP00000305941.3:p.Val4965ArgfsTer?
NM_206933.2:c.14893_14900del NP_996816.2:p.Val4965ArgfsTer?
NM_206933.3:c.14893_14900del NP_996816.2:p.Val4965ArgfsTer?
NM_206933.4:c.14893_14900del MANE Select NP_996816.3:p.Val4965ArgfsTer?
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