Canonical Allele Identifier: CA179580

Gene: USH2A USH2A-AS1

Linked Data

• ClinVar Variation Id: 166513
• ClinVar RCV Id: RCV000152628 ; RCV000477797 ; RCV001034259
• dbSNP Id: rs142302070
• ExAC: 1:216390843 G / A
• gnomAD v2: 1-216390843-G-A
• gnomAD v3: 1-216217501-G-A
• gnomAD v4: 1-216217501-G-A
• MyVariant Identifiers: chr1:g.216390843G>A (hg19) ; chr1:g.216217501G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216217501G>A , CM000663.2:g.216217501G>A	GRCh38
NC_000001.10:g.216390843G>A , CM000663.1:g.216390843G>A	GRCh37
NC_000001.9:g.214457466G>A	NCBI36
NG_009497.1:g.210896C>T
NG_009497.2:g.210948C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.3043C>T (USH2A) MANE Select	ENSP00000305941.3:p.His1015Tyr
ENST00000674083.1:c.3043C>T (USH2A)	ENSP00000501296.1:p.His1015Tyr
ENST00000307340.7:c.3043C>T (USH2A)	ENSP00000305941.3:p.His1015Tyr
ENST00000366942.3:c.3043C>T (USH2A)	ENSP00000355909.3:p.His1015Tyr
NM_007123.5:c.3043C>T (USH2A)	NP_009054.5:p.His1015Tyr
NM_206933.2:c.3043C>T (USH2A)	NP_996816.2:p.His1015Tyr
XR_922596.1:n.355-7886G>A (USH2A-AS1)
XR_922597.1:n.355-20334G>A (USH2A-AS1)
XR_922596.3:n.1077-7886G>A (USH2A-AS1)
NM_206933.3:c.3043C>T (USH2A)	NP_996816.2:p.His1015Tyr
NM_007123.6:c.3043C>T (USH2A)	NP_009054.6:p.His1015Tyr
NM_206933.4:c.3043C>T (USH2A) MANE Select	NP_996816.3:p.His1015Tyr