Canonical Allele Identifier: CA1395839

Gene: USH2A USH2A-AS1

Linked Data

• ClinVar Variation Id: 550393
• ClinVar RCV Id: RCV000665126 ; RCV002530645 ; RCV003451632 ; RCV003451631 ; RCV003889944
• dbSNP Id: rs201190539
• ExAC: 1:216371668 G / A
• gnomAD v2: 1-216371668-G-A
• gnomAD v3: 1-216198326-G-A
• gnomAD v4: 1-216198326-G-A
• COSMIC: COSM385088
• MyVariant Identifiers: chr1:g.216371668G>A (hg19) ; chr1:g.216198326G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216198326G>A , CM000663.2:g.216198326G>A	GRCh38
NC_000001.10:g.216371668G>A , CM000663.1:g.216371668G>A	GRCh37
NC_000001.9:g.214438291G>A	NCBI36
NG_009497.1:g.230071C>T
NG_009497.2:g.230123C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.4070C>T (USH2A) MANE Select	ENSP00000305941.3:p.Thr1357Met
ENST00000674083.1:c.4070C>T (USH2A)	ENSP00000501296.1:p.Thr1357Met
ENST00000307340.7:c.4070C>T (USH2A)	ENSP00000305941.3:p.Thr1357Met
ENST00000366942.3:c.4070C>T (USH2A)	ENSP00000355909.3:p.Thr1357Met
NM_007123.5:c.4070C>T (USH2A)	NP_009054.5:p.Thr1357Met
NM_206933.2:c.4070C>T (USH2A)	NP_996816.2:p.Thr1357Met
XR_922595.1:n.354+2401G>A (USH2A-AS1)
XR_922596.1:n.354+2401G>A (USH2A-AS1)
XR_922597.1:n.354+2401G>A (USH2A-AS1)
XR_922598.1:n.484+2401G>A (USH2A-AS1)
XR_922595.3:n.1076+2401G>A (USH2A-AS1)
XR_922596.3:n.1076+2401G>A (USH2A-AS1)
NM_206933.3:c.4070C>T (USH2A)	NP_996816.2:p.Thr1357Met
NM_007123.6:c.4070C>T (USH2A)	NP_009054.6:p.Thr1357Met
NM_206933.4:c.4070C>T (USH2A) MANE Select	NP_996816.3:p.Thr1357Met