Canonical Allele Identifier: CA915942013

Gene: USH2A

Linked Data

• ClinVar Variation Id: 556541
• ClinVar RCV Id: RCV000672562
• dbSNP Id: rs1553310736

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216175362_216175363insGTGACT , CM000663.2:g.216175362_216175363insGTGACT	GRCh38
NC_000001.10:g.216348704_216348705insGTGACT , CM000663.1:g.216348704_216348705insGTGACT	GRCh37
NC_000001.9:g.214415327_214415328insGTGACT	NCBI36
NG_009497.1:g.253039_253040insCAGTCA
NG_009497.2:g.253091_253092insCAGTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.4521_4522insCAGTCA MANE Select	ENSP00000305941.3:p.Ser1507_Ser1508insGlnSer
ENST00000674083.1:c.4521_4522insCAGTCA	ENSP00000501296.1:p.Ser1507_Ser1508insGlnSer
ENST00000307340.7:c.4521_4522insCAGTCA	ENSP00000305941.3:p.Ser1507_Ser1508insGlnSer
ENST00000366942.3:c.4521_4522insCAGTCA	ENSP00000355909.3:p.Ser1507_Ser1508insGlnSer
NM_007123.5:c.4521_4522insCAGTCA	NP_009054.5:p.Ser1507_Ser1508insGlnSer
NM_206933.2:c.4521_4522insCAGTCA	NP_996816.2:p.Ser1507_Ser1508insGlnSer
NM_206933.3:c.4521_4522insCAGTCA	NP_996816.2:p.Ser1507_Ser1508insGlnSer
NM_007123.6:c.4521_4522insCAGTCA	NP_009054.6:p.Ser1507_Ser1508insGlnSer
NM_206933.4:c.4521_4522insCAGTCA MANE Select	NP_996816.3:p.Ser1507_Ser1508insGlnSer