Canonical Allele Identifier: CA658795594
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 522464
ClinVar RCV Id: RCV000625605
dbSNP Id: rs1553320542
MyVariant Identifiers: chr1:g.216420456_216420457del (hg19) chr1:g.216247114_216247115del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216247114_216247115del , CM000663.2:g.216247114_216247115del GRCh38
NC_000001.10:g.216420456_216420457del , CM000663.1:g.216420456_216420457del GRCh37
NC_000001.9:g.214487079_214487080del NCBI36
NG_009497.1:g.181282_181283del
NG_009497.2:g.181334_181335del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2279_2280del MANE Select ENSP00000305941.3:p.Asn760ThrfsTer7
ENST00000674083.1:c.2279_2280del ENSP00000501296.1:p.Asn760ThrfsTer7
ENST00000307340.7:c.2279_2280del ENSP00000305941.3:p.Asn760ThrfsTer7
ENST00000366942.3:c.2279_2280del ENSP00000355909.3:p.Asn760ThrfsTer7
NM_007123.5:c.2279_2280del NP_009054.5:p.Asn760ThrfsTer7
NM_206933.2:c.2279_2280del NP_996816.2:p.Asn760ThrfsTer7
NM_206933.3:c.2279_2280del NP_996816.2:p.Asn760ThrfsTer7
NM_007123.6:c.2279_2280del NP_009054.6:p.Asn760ThrfsTer7
NM_206933.4:c.2279_2280del MANE Select NP_996816.3:p.Asn760ThrfsTer7
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