Canonical Allele Identifier: CA1396049

Gene: USH2A USH2A-AS1

Linked Data

• dbSNP Id: rs771928055
• ExAC: 1:216380716 A / C
• gnomAD v2: 1-216380716-A-C
• gnomAD v4: 1-216207374-A-C
• MyVariant Identifiers: chr1:g.216380716A>C (hg19) ; chr1:g.216207374A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216207374A>C , CM000663.2:g.216207374A>C	GRCh38
NC_000001.10:g.216380716A>C , CM000663.1:g.216380716A>C	GRCh37
NC_000001.9:g.214447339A>C	NCBI36
NG_009497.1:g.221023T>G
NG_009497.2:g.221075T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.3215T>G (USH2A) MANE Select	ENSP00000305941.3:p.Leu1072Arg
ENST00000674083.1:c.3215T>G (USH2A)	ENSP00000501296.1:p.Leu1072Arg
ENST00000307340.7:c.3215T>G (USH2A)	ENSP00000305941.3:p.Leu1072Arg
ENST00000366942.3:c.3215T>G (USH2A)	ENSP00000355909.3:p.Leu1072Arg
NM_007123.5:c.3215T>G (USH2A)	NP_009054.5:p.Leu1072Arg
NM_206933.2:c.3215T>G (USH2A)	NP_996816.2:p.Leu1072Arg
XR_922596.1:n.354+11449A>C (USH2A-AS1)
XR_922597.1:n.354+11449A>C (USH2A-AS1)
XR_922596.3:n.1076+11449A>C (USH2A-AS1)
NM_206933.3:c.3215T>G (USH2A)	NP_996816.2:p.Leu1072Arg
NM_007123.6:c.3215T>G (USH2A)	NP_009054.6:p.Leu1072Arg
NM_206933.4:c.3215T>G (USH2A) MANE Select	NP_996816.3:p.Leu1072Arg