Canonical Allele Identifier: CA2580062140

Gene: USH2A

Linked Data

• ClinVar Variation Id: 2050603
• ClinVar RCV Id: RCV002904521

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216247037_216247038delinsAT , CM000663.2:g.216247037_216247038delinsAT	GRCh38
NC_000001.10:g.216420379_216420380delinsAT , CM000663.1:g.216420379_216420380delinsAT	GRCh37
NC_000001.9:g.214487002_214487003delinsAT	NCBI36
NG_009497.1:g.181359_181360delinsAT
NG_009497.2:g.181411_181412delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.2356_2357delinsAT MANE Select	ENSP00000305941.3:p.Gly786Met
ENST00000674083.1:c.2356_2357delinsAT	ENSP00000501296.1:p.Gly786Met
ENST00000307340.7:c.2356_2357delinsAT	ENSP00000305941.3:p.Gly786Met
ENST00000366942.3:c.2356_2357delinsAT	ENSP00000355909.3:p.Gly786Met
NM_007123.5:c.2356_2357delinsAT	NP_009054.5:p.Gly786Met
NM_206933.2:c.2356_2357delinsAT	NP_996816.2:p.Gly786Met
NM_206933.3:c.2356_2357delinsAT	NP_996816.2:p.Gly786Met
NM_007123.6:c.2356_2357delinsAT	NP_009054.6:p.Gly786Met
NM_206933.4:c.2356_2357delinsAT MANE Select	NP_996816.3:p.Gly786Met