Canonical Allele Identifier: CA1396012

Gene: USH2A USH2A-AS1

Linked Data

• dbSNP Id: rs770768766
• ExAC: 1:216373462 AC / A
• gnomAD v2: 1-216373462-AC-A
• MyVariant Identifiers: chr1:g.216373463del (hg19) ; chr1:g.216200121del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216200122del , CM000663.2:g.216200122del	GRCh38
NC_000001.10:g.216373464del , CM000663.1:g.216373464del	GRCh37
NC_000001.9:g.214440087del	NCBI36
NG_009497.1:g.228276del
NG_009497.2:g.228328del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.3317del (USH2A)
ENST00000674083.1:c.3317del (USH2A)
ENST00000307340.7:c.3317del (USH2A)
ENST00000366942.3:c.3317del (USH2A)
NM_007123.5:c.3317del (USH2A)
NM_206933.2:c.3317del (USH2A)
XR_922595.1:n.355-3908del (USH2A-AS1)
XR_922596.1:n.354+4197del (USH2A-AS1)
XR_922597.1:n.354+4197del (USH2A-AS1)
XR_922598.1:n.485-3908del (USH2A-AS1)
XR_922595.3:n.1077-3908del (USH2A-AS1)
XR_922596.3:n.1076+4197del (USH2A-AS1)
NM_206933.3:c.3317del (USH2A)
NM_007123.6:c.3317del (USH2A)
NM_206933.4:c.3317del (USH2A)