Canonical Allele Identifier: CA262131

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48626
• ClinVar RCV Id: RCV000041952 ; RCV001003263 ; RCV001055909 ; RCV001074810 ; RCV000624783 ; RCV001723630 ; RCV001831709 ; RCV002504928 ; RCV003387741 ; RCV003492342
• dbSNP Id: rs397518048
• ExAC: 1:215990485 C / A
• gnomAD v2: 1-215990485-C-A
• gnomAD v3: 1-215817143-C-A
• gnomAD v4: 1-215817143-C-A
• MyVariant Identifiers: chr1:g.215990485C>A (hg19) ; chr1:g.215817143C>A (hg38)
• PubMed: PMID:10729113 ; PMID:10775529 ; PMID:11311042 ; PMID:12525556 ; PMID:15325563 ; PMID:17296898 ; PMID:17405132 ; PMID:18641288 ; PMID:18665195 ; PMID:20145675 ; PMID:20507924 ; PMID:21174530 ; PMID:21234346 ; PMID:22495311 ; PMID:23352160 ; PMID:24160897 ; PMID:24944099 ; PMID:25649381

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817143C>A , CM000663.2:g.215817143C>A	GRCh38
NC_000001.10:g.215990485C>A , CM000663.1:g.215990485C>A	GRCh37
NC_000001.9:g.214057108C>A	NCBI36
NG_009497.1:g.611254G>T
NG_009497.2:g.611306G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9424G>T MANE Select	ENSP00000305941.3:p.Gly3142Ter
ENST00000674083.1:c.9424G>T	ENSP00000501296.1:p.Gly3142Ter
ENST00000307340.7:c.9424G>T	ENSP00000305941.3:p.Gly3142Ter
NM_206933.2:c.9424G>T	NP_996816.2:p.Gly3142Ter
NM_206933.3:c.9424G>T	NP_996816.2:p.Gly3142Ter
NM_206933.4:c.9424G>T MANE Select	NP_996816.3:p.Gly3142Ter