Canonical Allele Identifier: CA182588
Gene: USH2A HGNC NCBI

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
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'