Canonical Allele Identifier: CA1395342

Gene: USH2A USH2A-AS2

Linked Data

• ClinVar Variation Id: 265287
• ClinVar RCV Id: RCV000255960 ; RCV001276244 ; RCV003475859 ; RCV003888668
• dbSNP Id: rs751130485
• ExAC: 1:216246252 G / A
• gnomAD v2: 1-216246252-G-A
• gnomAD v3: 1-216072910-G-A
• gnomAD v4: 1-216072910-G-A
• MyVariant Identifiers: chr1:g.216246252G>A (hg19) ; chr1:g.216072910G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216072910G>A , CM000663.2:g.216072910G>A	GRCh38
NC_000001.10:g.216246252G>A , CM000663.1:g.216246252G>A	GRCh37
NC_000001.9:g.214312875G>A	NCBI36
NG_009497.1:g.355487C>T
NG_009497.2:g.355539C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5836C>T (USH2A) MANE Select	ENSP00000305941.3:p.Arg1946Ter
ENST00000674083.1:c.5836C>T (USH2A)	ENSP00000501296.1:p.Arg1946Ter
ENST00000307340.7:c.5836C>T (USH2A)	ENSP00000305941.3:p.Arg1946Ter
NM_206933.2:c.5836C>T (USH2A)	NP_996816.2:p.Arg1946Ter
NR_125992.1:n.136+310G>A (USH2A-AS2)
NR_125993.1:n.136+310G>A (USH2A-AS2)
NM_206933.3:c.5836C>T (USH2A)	NP_996816.2:p.Arg1946Ter
NM_206933.4:c.5836C>T (USH2A) MANE Select	NP_996816.3:p.Arg1946Ter