Canonical Allele Identifier: CA262135

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48634
• ClinVar RCV Id: RCV000041960 ; RCV000668014 ; RCV000787745 ; RCV001044836 ; RCV001075163 ; RCV003450915 ; RCV003450916
• dbSNP Id: rs111033263
• gnomAD v2: 1-215972408-A-G
• gnomAD v3: 1-215799066-A-G
• gnomAD v4: 1-215799066-A-G
• MyVariant Identifiers: chr1:g.215972408A>G (hg19) ; chr1:g.215799066A>G (hg38)
• PubMed: PMID:17085681

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215799066A>G , CM000663.2:g.215799066A>G	GRCh38
NC_000001.10:g.215972408A>G , CM000663.1:g.215972408A>G	GRCh37
NC_000001.9:g.214039031A>G	NCBI36
NG_009497.1:g.629331T>C
NG_009497.2:g.629383T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9799T>C MANE Select	ENSP00000305941.3:p.Cys3267Arg
ENST00000674083.1:c.9799T>C	ENSP00000501296.1:p.Cys3267Arg
ENST00000307340.7:c.9799T>C	ENSP00000305941.3:p.Cys3267Arg
NM_206933.2:c.9799T>C	NP_996816.2:p.Cys3267Arg
NM_206933.3:c.9799T>C	NP_996816.2:p.Cys3267Arg
NM_206933.4:c.9799T>C MANE Select	NP_996816.3:p.Cys3267Arg