Canonical Allele Identifier: CA915942024

Gene: USH2A

Linked Data

• ClinVar Variation Id: 801617
• ClinVar RCV Id: RCV000986545 ; RCV003669173
• dbSNP Id: rs1572088481

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216246860del , CM000663.2:g.216246860del	GRCh38
NC_000001.10:g.216420202del , CM000663.1:g.216420202del	GRCh37
NC_000001.9:g.214486825del	NCBI36
NG_009497.1:g.181537del
NG_009497.2:g.181589del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.2534del MANE Select	ENSP00000305941.3:p.Leu845ArgfsTer11
ENST00000674083.1:c.2534del	ENSP00000501296.1:p.Leu845ArgfsTer11
ENST00000307340.7:c.2534del	ENSP00000305941.3:p.Leu845ArgfsTer11
ENST00000366942.3:c.2534del	ENSP00000355909.3:p.Leu845ArgfsTer11
NM_007123.5:c.2534del	NP_009054.5:p.Leu845ArgfsTer11
NM_206933.2:c.2534del	NP_996816.2:p.Leu845ArgfsTer11
NM_206933.3:c.2534del	NP_996816.2:p.Leu845ArgfsTer11
NM_007123.6:c.2534del	NP_009054.6:p.Leu845ArgfsTer11
NM_206933.4:c.2534del MANE Select	NP_996816.3:p.Leu845ArgfsTer11