Canonical Allele Identifier: CA16603533

Gene: USH2A

Linked Data

• ClinVar Variation Id: 379205
• ClinVar RCV Id: RCV000438959 ; RCV000589870 ; RCV001833524 ; RCV000667167
• dbSNP Id: rs397517979
• gnomAD v2: 1-216497611-C-T
• gnomAD v3: 1-216324269-C-T
• gnomAD v4: 1-216324269-C-T
• MyVariant Identifiers: chr1:g.216497611C>T (hg19) ; chr1:g.216324269C>T (hg38)
• PubMed: PMID:10729113 ; PMID:22334370

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216324269C>T , CM000663.2:g.216324269C>T	GRCh38
NC_000001.10:g.216497611C>T , CM000663.1:g.216497611C>T	GRCh37
NC_000001.9:g.214564234C>T	NCBI36
NG_009497.1:g.104128G>A
NG_009497.2:g.104180G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.1227G>A MANE Select	ENSP00000305941.3:p.Trp409Ter
ENST00000674083.1:c.1227G>A	ENSP00000501296.1:p.Trp409Ter
ENST00000307340.7:c.1227G>A	ENSP00000305941.3:p.Trp409Ter
ENST00000366942.3:c.1227G>A	ENSP00000355909.3:p.Trp409Ter
NM_007123.5:c.1227G>A	NP_009054.5:p.Trp409Ter
NM_206933.2:c.1227G>A	NP_996816.2:p.Trp409Ter
NM_206933.3:c.1227G>A	NP_996816.2:p.Trp409Ter
NM_007123.6:c.1227G>A	NP_009054.6:p.Trp409Ter
NM_206933.4:c.1227G>A MANE Select	NP_996816.3:p.Trp409Ter