Canonical Allele Identifier: CA143613

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48592
• ClinVar RCV Id: RCV000041918 ; RCV000675158 ; RCV001074162 ; RCV001003288 ; RCV001060026 ; RCV001826601 ; RCV003450896
• dbSNP Id: rs111033280
• ExAC: 1:216500979 C / T
• gnomAD v2: 1-216500979-C-T
• gnomAD v3: 1-216327637-C-T
• gnomAD v4: 1-216327637-C-T
• COSMIC: COSM1738381 ; COSM3307668 ; COSM3307669
• MyVariant Identifiers: chr1:g.216500979C>T (hg19) ; chr1:g.216327637C>T (hg38)
• PubMed: PMID:10729113 ; PMID:15325563 ; PMID:18273898

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216327637C>T , CM000663.2:g.216327637C>T	GRCh38
NC_000001.10:g.216500979C>T , CM000663.1:g.216500979C>T	GRCh37
NC_000001.9:g.214567602C>T	NCBI36
NG_009497.1:g.100760G>A
NG_009497.2:g.100812G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.802G>A MANE Select	ENSP00000305941.3:p.Gly268Arg
ENST00000674083.1:c.802G>A	ENSP00000501296.1:p.Gly268Arg
ENST00000307340.7:c.802G>A	ENSP00000305941.3:p.Gly268Arg
ENST00000366942.3:c.802G>A	ENSP00000355909.3:p.Gly268Arg
NM_007123.5:c.802G>A	NP_009054.5:p.Gly268Arg
NM_206933.2:c.802G>A	NP_996816.2:p.Gly268Arg
NM_206933.3:c.802G>A	NP_996816.2:p.Gly268Arg
NM_007123.6:c.802G>A	NP_009054.6:p.Gly268Arg
NM_206933.4:c.802G>A MANE Select	NP_996816.3:p.Gly268Arg