Canonical Allele Identifier: CA344867703

Gene: USH2A USH2A-AS1

Linked Data

• COSMIC: COSM4491259 ; COSM4491260 ; COSM4491261
• MyVariant Identifiers: chr1:g.216373002G>A (hg19) ; chr1:g.216199660G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216199660G>A , CM000663.2:g.216199660G>A	GRCh38
NC_000001.10:g.216373002G>A , CM000663.1:g.216373002G>A	GRCh37
NC_000001.9:g.214439625G>A	NCBI36
NG_009497.1:g.228737C>T
NG_009497.2:g.228789C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.3778C>T (USH2A) MANE Select	ENSP00000305941.3:p.His1260Tyr
ENST00000674083.1:c.3778C>T (USH2A)	ENSP00000501296.1:p.His1260Tyr
ENST00000307340.7:c.3778C>T (USH2A)	ENSP00000305941.3:p.His1260Tyr
ENST00000366942.3:c.3778C>T (USH2A)	ENSP00000355909.3:p.His1260Tyr
NM_007123.5:c.3778C>T (USH2A)	NP_009054.5:p.His1260Tyr
NM_206933.2:c.3778C>T (USH2A)	NP_996816.2:p.His1260Tyr
XR_922595.1:n.354+3735G>A (USH2A-AS1)
XR_922596.1:n.354+3735G>A (USH2A-AS1)
XR_922597.1:n.354+3735G>A (USH2A-AS1)
XR_922598.1:n.484+3735G>A (USH2A-AS1)
XR_922595.3:n.1076+3735G>A (USH2A-AS1)
XR_922596.3:n.1076+3735G>A (USH2A-AS1)
NM_206933.3:c.3778C>T (USH2A)	NP_996816.2:p.His1260Tyr
NM_007123.6:c.3778C>T (USH2A)	NP_009054.6:p.His1260Tyr
NM_206933.4:c.3778C>T (USH2A) MANE Select	NP_996816.3:p.His1260Tyr