Canonical Allele Identifier: CA143454

Gene: USH2A USH2A-AS1

Linked Data

• ClinVar Variation Id: 48495
• ClinVar RCV Id: RCV000041821 ; RCV000487811 ; RCV001097185 ; RCV001097184 ; RCV001578841
• dbSNP Id: rs149304901
• ExAC: 1:216390763 G / T
• gnomAD v2: 1-216390763-G-T
• gnomAD v3: 1-216217421-G-T
• gnomAD v4: 1-216217421-G-T
• MyVariant Identifiers: chr1:g.216390763G>T (hg19) ; chr1:g.216217421G>T (hg38)
• PubMed: PMID:21147909

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216217421G>T , CM000663.2:g.216217421G>T	GRCh38
NC_000001.10:g.216390763G>T , CM000663.1:g.216390763G>T	GRCh37
NC_000001.9:g.214457386G>T	NCBI36
NG_009497.1:g.210976C>A
NG_009497.2:g.211028C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.3123C>A (USH2A) MANE Select	ENSP00000305941.3:p.His1041Gln
ENST00000674083.1:c.3123C>A (USH2A)	ENSP00000501296.1:p.His1041Gln
ENST00000307340.7:c.3123C>A (USH2A)	ENSP00000305941.3:p.His1041Gln
ENST00000366942.3:c.3123C>A (USH2A)	ENSP00000355909.3:p.His1041Gln
NM_007123.5:c.3123C>A (USH2A)	NP_009054.5:p.His1041Gln
NM_206933.2:c.3123C>A (USH2A)	NP_996816.2:p.His1041Gln
XR_922596.1:n.355-7966G>T (USH2A-AS1)
XR_922597.1:n.355-20414G>T (USH2A-AS1)
XR_922596.3:n.1077-7966G>T (USH2A-AS1)
NM_206933.3:c.3123C>A (USH2A)	NP_996816.2:p.His1041Gln
NM_007123.6:c.3123C>A (USH2A)	NP_009054.6:p.His1041Gln
NM_206933.4:c.3123C>A (USH2A) MANE Select	NP_996816.3:p.His1041Gln