Canonical Allele Identifier: CA270152

Gene: USH2A

Linked Data

• ClinVar Variation Id: 143179
• ClinVar RCV Id: RCV000132710 ; RCV000576637 ; RCV000595137 ; RCV001074347 ; RCV000986542 ; RCV001003277 ; RCV002469023
• dbSNP Id: rs201527662
• ExAC: 1:216419934 A / C
• gnomAD v2: 1-216419934-A-C
• gnomAD v3: 1-216246592-A-C
• gnomAD v4: 1-216246592-A-C
• MyVariant Identifiers: chr1:g.216419934A>C (hg19) ; chr1:g.216246592A>C (hg38)
• PubMed: PMID:21686329 ; PMID:24938718 ; PMID:25324289 ; PMID:26310143 ; PMID:26338283 ; PMID:27460420 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216246592A>C , CM000663.2:g.216246592A>C	GRCh38
NC_000001.10:g.216419934A>C , CM000663.1:g.216419934A>C	GRCh37
NC_000001.9:g.214486557A>C	NCBI36
NG_009497.1:g.181805T>G
NG_009497.2:g.181857T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.2802T>G MANE Select	ENSP00000305941.3:p.Cys934Trp
ENST00000674083.1:c.2802T>G	ENSP00000501296.1:p.Cys934Trp
ENST00000307340.7:c.2802T>G	ENSP00000305941.3:p.Cys934Trp
ENST00000366942.3:c.2802T>G	ENSP00000355909.3:p.Cys934Trp
NM_007123.5:c.2802T>G	NP_009054.5:p.Cys934Trp
NM_206933.2:c.2802T>G	NP_996816.2:p.Cys934Trp
NM_206933.3:c.2802T>G	NP_996816.2:p.Cys934Trp
NM_007123.6:c.2802T>G	NP_009054.6:p.Cys934Trp
NM_206933.4:c.2802T>G MANE Select	NP_996816.3:p.Cys934Trp