Canonical Allele Identifier: CA143578

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48572
• ClinVar RCV Id: RCV000041898 ; RCV000126255 ; RCV001097446 ; RCV001273813 ; RCV003888405
• dbSNP Id: rs45500891
• ExAC: 1:216538391 C / T
• gnomAD v2: 1-216538391-C-T
• gnomAD v3: 1-216365049-C-T
• gnomAD v4: 1-216365049-C-T
• MyVariant Identifiers: chr1:g.216538391C>T (hg19) ; chr1:g.216365049C>T (hg38)
• PubMed: PMID:10909849 ; PMID:11311042 ; PMID:15325563 ; PMID:16963483 ; PMID:18273898

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216365049C>T , CM000663.2:g.216365049C>T	GRCh38
NC_000001.10:g.216538391C>T , CM000663.1:g.216538391C>T	GRCh37
NC_000001.9:g.214605014C>T	NCBI36
NG_009497.1:g.63348G>A
NG_009497.2:g.63400G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.688G>A MANE Select	ENSP00000305941.3:p.Val230Met
ENST00000674083.1:c.688G>A	ENSP00000501296.1:p.Val230Met
ENST00000307340.7:c.688G>A	ENSP00000305941.3:p.Val230Met
ENST00000366942.3:c.688G>A	ENSP00000355909.3:p.Val230Met
NM_007123.5:c.688G>A	NP_009054.5:p.Val230Met
NM_206933.2:c.688G>A	NP_996816.2:p.Val230Met
NM_206933.3:c.688G>A	NP_996816.2:p.Val230Met
NM_007123.6:c.688G>A	NP_009054.6:p.Val230Met
NM_206933.4:c.688G>A MANE Select	NP_996816.3:p.Val230Met