Canonical Allele Identifier: CA344866852

Gene: USH2A USH2A-AS1

Linked Data

• gnomAD v4: 1-216198317-G-T
• COSMIC: COSM4997550 ; COSM4997551 ; COSM4997552
• MyVariant Identifiers: chr1:g.216371659G>T (hg19) ; chr1:g.216198317G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216198317G>T , CM000663.2:g.216198317G>T	GRCh38
NC_000001.10:g.216371659G>T , CM000663.1:g.216371659G>T	GRCh37
NC_000001.9:g.214438282G>T	NCBI36
NG_009497.1:g.230080C>A
NG_009497.2:g.230132C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.4079C>A (USH2A) MANE Select	ENSP00000305941.3:p.Ser1360Ter
ENST00000674083.1:c.4079C>A (USH2A)	ENSP00000501296.1:p.Ser1360Ter
ENST00000307340.7:c.4079C>A (USH2A)	ENSP00000305941.3:p.Ser1360Ter
ENST00000366942.3:c.4079C>A (USH2A)	ENSP00000355909.3:p.Ser1360Ter
NM_007123.5:c.4079C>A (USH2A)	NP_009054.5:p.Ser1360Ter
NM_206933.2:c.4079C>A (USH2A)	NP_996816.2:p.Ser1360Ter
XR_922595.1:n.354+2392G>T (USH2A-AS1)
XR_922596.1:n.354+2392G>T (USH2A-AS1)
XR_922597.1:n.354+2392G>T (USH2A-AS1)
XR_922598.1:n.484+2392G>T (USH2A-AS1)
XR_922595.3:n.1076+2392G>T (USH2A-AS1)
XR_922596.3:n.1076+2392G>T (USH2A-AS1)
NM_206933.3:c.4079C>A (USH2A)	NP_996816.2:p.Ser1360Ter
NM_007123.6:c.4079C>A (USH2A)	NP_009054.6:p.Ser1360Ter
NM_206933.4:c.4079C>A (USH2A) MANE Select	NP_996816.3:p.Ser1360Ter