Canonical Allele Identifier: CA423431313

Gene: USH2A USH2A-AS1

Linked Data

• ClinVar Variation Id: 1999293
• ClinVar RCV Id: RCV002815299
• dbSNP Id: rs1394170988
• gnomAD v2: 1-216373030-C-T
• gnomAD v4: 1-216199688-C-T
• MyVariant Identifiers: chr1:g.216373030C>T (hg19) ; chr1:g.216199688C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216199688C>T , CM000663.2:g.216199688C>T	GRCh38
NC_000001.10:g.216373030C>T , CM000663.1:g.216373030C>T	GRCh37
NC_000001.9:g.214439653C>T	NCBI36
NG_009497.1:g.228709G>A
NG_009497.2:g.228761G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.3750G>A (USH2A) MANE Select	ENSP00000305941.3:p.Lys1250=
ENST00000674083.1:c.3750G>A (USH2A)	ENSP00000501296.1:p.Lys1250=
ENST00000307340.7:c.3750G>A (USH2A)	ENSP00000305941.3:p.Lys1250=
ENST00000366942.3:c.3750G>A (USH2A)	ENSP00000355909.3:p.Lys1250=
NM_007123.5:c.3750G>A (USH2A)	NP_009054.5:p.Lys1250=
NM_206933.2:c.3750G>A (USH2A)	NP_996816.2:p.Lys1250=
XR_922595.1:n.354+3763C>T (USH2A-AS1)
XR_922596.1:n.354+3763C>T (USH2A-AS1)
XR_922597.1:n.354+3763C>T (USH2A-AS1)
XR_922598.1:n.484+3763C>T (USH2A-AS1)
XR_922595.3:n.1076+3763C>T (USH2A-AS1)
XR_922596.3:n.1076+3763C>T (USH2A-AS1)
NM_206933.3:c.3750G>A (USH2A)	NP_996816.2:p.Lys1250=
NM_007123.6:c.3750G>A (USH2A)	NP_009054.6:p.Lys1250=
NM_206933.4:c.3750G>A (USH2A) MANE Select	NP_996816.3:p.Lys1250=