Canonical Allele Identifier: CA2499214499

Gene: USH2A USH2A-AS1

Linked Data

• ClinVar Variation Id: 1052368
• ClinVar RCV Id: RCV001360534
• dbSNP Id: rs2102481081

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216207434_216207439del , CM000663.2:g.216207434_216207439del	GRCh38
NC_000001.10:g.216380776_216380781del , CM000663.1:g.216380776_216380781del	GRCh37
NC_000001.9:g.214447399_214447404del	NCBI36
NG_009497.1:g.220958_220963del
NG_009497.2:g.221010_221015del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.3158-8_3158-3del (USH2A) MANE Select	ENSP00000305941.3:n.3158-8_3158-3del
ENST00000674083.1:c.3158-8_3158-3del (USH2A)	ENSP00000501296.1:n.3158-8_3158-3del
ENST00000307340.7:c.3158-8_3158-3del (USH2A)	ENSP00000305941.3:n.3158-8_3158-3del
ENST00000366942.3:c.3158-8_3158-3del (USH2A)	ENSP00000355909.3:n.3158-8_3158-3del
NM_007123.5:c.3158-8_3158-3del (USH2A)	NP_009054.5:n.3158-8_3158-3del
NM_206933.2:c.3158-8_3158-3del (USH2A)	NP_996816.2:n.3158-8_3158-3del
XR_922596.1:n.354+11509_354+11514del (USH2A-AS1)
XR_922597.1:n.354+11509_354+11514del (USH2A-AS1)
XR_922596.3:n.1076+11509_1076+11514del (USH2A-AS1)
NM_206933.3:c.3158-8_3158-3del (USH2A)	NP_996816.2:n.3158-8_3158-3del
NM_007123.6:c.3158-8_3158-3del (USH2A)	NP_009054.6:n.3158-8_3158-3del
NM_206933.4:c.3158-8_3158-3del (USH2A) MANE Select	NP_996816.3:n.3158-8_3158-3del