Canonical Allele Identifier: CA143433

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48482
• ClinVar RCV Id: RCV000041805 ; RCV000888471 ; RCV001097279 ; RCV000986546 ; RCV004018917
• dbSNP Id: rs111033248
• ExAC: 1:216424360 T / C
• gnomAD v2: 1-216424360-T-C
• gnomAD v3: 1-216251018-T-C
• gnomAD v4: 1-216251018-T-C
• MyVariant Identifiers: chr1:g.216424360T>C (hg19) ; chr1:g.216251018T>C (hg38)
• PubMed: PMID:10729113 ; PMID:22135276

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216251018T>C , CM000663.2:g.216251018T>C	GRCh38
NC_000001.10:g.216424360T>C , CM000663.1:g.216424360T>C	GRCh37
NC_000001.9:g.214490983T>C	NCBI36
NG_009497.1:g.177379A>G
NG_009497.2:g.177431A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.2052A>G MANE Select	ENSP00000305941.3:p.Gln684=
ENST00000674083.1:c.2052A>G	ENSP00000501296.1:p.Gln684=
ENST00000307340.7:c.2052A>G	ENSP00000305941.3:p.Gln684=
ENST00000366942.3:c.2052A>G	ENSP00000355909.3:p.Gln684=
NM_007123.5:c.2052A>G	NP_009054.5:p.Gln684=
NM_206933.2:c.2052A>G	NP_996816.2:p.Gln684=
NM_206933.3:c.2052A>G	NP_996816.2:p.Gln684=
NM_007123.6:c.2052A>G	NP_009054.6:p.Gln684=
NM_206933.4:c.2052A>G MANE Select	NP_996816.3:p.Gln684=