Canonical Allele Identifier: CA1394970

Gene: USH2A

Linked Data

• ClinVar Variation Id: 225513
• ClinVar RCV Id: RCV000490448 ; RCV000665617 ; RCV002282046 ; RCV002517445
• dbSNP Id: rs201281141
• ExAC: 1:216138779 T / C
• gnomAD v2: 1-216138779-T-C
• gnomAD v3: 1-215965437-T-C
• gnomAD v4: 1-215965437-T-C
• MyVariant Identifiers: chr1:g.216138779T>C (hg19) ; chr1:g.215965437T>C (hg38)
• PubMed: PMID:23967202

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215965437T>C , CM000663.2:g.215965437T>C	GRCh38
NC_000001.10:g.216138779T>C , CM000663.1:g.216138779T>C	GRCh37
NC_000001.9:g.214205402T>C	NCBI36
NG_009497.1:g.462960A>G
NG_009497.2:g.463012A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.7000A>G MANE Select	ENSP00000305941.3:p.Asn2334Asp
ENST00000674083.1:c.7000A>G	ENSP00000501296.1:p.Asn2334Asp
ENST00000307340.7:c.7000A>G	ENSP00000305941.3:p.Asn2334Asp
NM_206933.2:c.7000A>G	NP_996816.2:p.Asn2334Asp
NM_206933.3:c.7000A>G	NP_996816.2:p.Asn2334Asp
NM_206933.4:c.7000A>G MANE Select	NP_996816.3:p.Asn2334Asp