Canonical Allele Identifier: CA344867796

Gene: USH2A USH2A-AS1

Linked Data

• COSMIC: COSM5823505 ; COSM5823506 ; COSM5823507
• MyVariant Identifiers: chr1:g.216373043A>G (hg19) ; chr1:g.216199701A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216199701A>G , CM000663.2:g.216199701A>G	GRCh38
NC_000001.10:g.216373043A>G , CM000663.1:g.216373043A>G	GRCh37
NC_000001.9:g.214439666A>G	NCBI36
NG_009497.1:g.228696T>C
NG_009497.2:g.228748T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.3737T>C (USH2A) MANE Select	ENSP00000305941.3:p.Leu1246Pro
ENST00000674083.1:c.3737T>C (USH2A)	ENSP00000501296.1:p.Leu1246Pro
ENST00000307340.7:c.3737T>C (USH2A)	ENSP00000305941.3:p.Leu1246Pro
ENST00000366942.3:c.3737T>C (USH2A)	ENSP00000355909.3:p.Leu1246Pro
NM_007123.5:c.3737T>C (USH2A)	NP_009054.5:p.Leu1246Pro
NM_206933.2:c.3737T>C (USH2A)	NP_996816.2:p.Leu1246Pro
XR_922595.1:n.354+3776A>G (USH2A-AS1)
XR_922596.1:n.354+3776A>G (USH2A-AS1)
XR_922597.1:n.354+3776A>G (USH2A-AS1)
XR_922598.1:n.484+3776A>G (USH2A-AS1)
XR_922595.3:n.1076+3776A>G (USH2A-AS1)
XR_922596.3:n.1076+3776A>G (USH2A-AS1)
NM_206933.3:c.3737T>C (USH2A)	NP_996816.2:p.Leu1246Pro
NM_007123.6:c.3737T>C (USH2A)	NP_009054.6:p.Leu1246Pro
NM_206933.4:c.3737T>C (USH2A) MANE Select	NP_996816.3:p.Leu1246Pro