Canonical Allele Identifier: CA183926

Gene: USH2A

Linked Data

• ClinVar Variation Id: 179193
• ClinVar RCV Id: RCV000155979 ; RCV000666822 ; RCV000943628
• dbSNP Id: rs201847741
• ExAC: 1:216496918 G / A
• gnomAD v2: 1-216496918-G-A
• gnomAD v3: 1-216323576-G-A
• gnomAD v4: 1-216323576-G-A
• COSMIC: COSM6061112 ; COSM6061113 ; COSM6061114
• MyVariant Identifiers: chr1:g.216496918G>A (hg19) ; chr1:g.216323576G>A (hg38)
• PubMed: PMID:24938718

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216323576G>A , CM000663.2:g.216323576G>A	GRCh38
NC_000001.10:g.216496918G>A , CM000663.1:g.216496918G>A	GRCh37
NC_000001.9:g.214563541G>A	NCBI36
NG_009497.1:g.104821C>T
NG_009497.2:g.104873C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.1448C>T MANE Select	ENSP00000305941.3:p.Thr483Met
ENST00000674083.1:c.1448C>T	ENSP00000501296.1:p.Thr483Met
ENST00000307340.7:c.1448C>T	ENSP00000305941.3:p.Thr483Met
ENST00000366942.3:c.1448C>T	ENSP00000355909.3:p.Thr483Met
NM_007123.5:c.1448C>T	NP_009054.5:p.Thr483Met
NM_206933.2:c.1448C>T	NP_996816.2:p.Thr483Met
NM_206933.3:c.1448C>T	NP_996816.2:p.Thr483Met
NM_007123.6:c.1448C>T	NP_009054.6:p.Thr483Met
NM_206933.4:c.1448C>T MANE Select	NP_996816.3:p.Thr483Met