Canonical Allele Identifier: CA182588

Gene: USH2A

Linked Data

• ClinVar Variation Id: 178574
• ClinVar RCV Id: RCV000155322 ; RCV000664687 ; RCV001274938 ; RCV001579277 ; RCV001244553
• dbSNP Id: rs146264950
• ExAC: 1:215901623 C / T
• gnomAD v2: 1-215901623-C-T
• gnomAD v3: 1-215728281-C-T
• gnomAD v4: 1-215728281-C-T
• COSMIC: COSM3732771 ; COSM3732772
• MyVariant Identifiers: chr1:g.215901623C>T (hg19) ; chr1:g.215728281C>T (hg38)
• PubMed: PMID:22334370 ; PMID:26856745

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215728281C>T , CM000663.2:g.215728281C>T	GRCh38
NC_000001.10:g.215901623C>T , CM000663.1:g.215901623C>T	GRCh37
NC_000001.9:g.213968246C>T	NCBI36
NG_009497.1:g.700116G>A
NG_009497.2:g.700168G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.11815G>A MANE Select	ENSP00000305941.3:p.Glu3939Lys
ENST00000674083.1:c.11815G>A	ENSP00000501296.1:p.Glu3939Lys
ENST00000307340.7:c.11815G>A	ENSP00000305941.3:p.Glu3939Lys
NM_206933.2:c.11815G>A	NP_996816.2:p.Glu3939Lys
NM_206933.3:c.11815G>A	NP_996816.2:p.Glu3939Lys
NM_206933.4:c.11815G>A MANE Select	NP_996816.3:p.Glu3939Lys