Canonical Allele Identifier: CA344848848
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 861594
ClinVar RCV Id: RCV001068155
dbSNP Id: rs1662221668
MyVariant Identifiers: chr1:g.215972323C>T (hg19) chr1:g.215798981C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215798981C>T , CM000663.2:g.215798981C>T GRCh38
NC_000001.10:g.215972323C>T , CM000663.1:g.215972323C>T GRCh37
NC_000001.9:g.214038946C>T NCBI36
NG_009497.1:g.629416G>A
NG_009497.2:g.629468G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9884G>A MANE Select ENSP00000305941.3:p.Cys3295Tyr
ENST00000674083.1:c.9884G>A ENSP00000501296.1:p.Cys3295Tyr
ENST00000307340.7:c.9884G>A ENSP00000305941.3:p.Cys3295Tyr
NM_206933.2:c.9884G>A NP_996816.2:p.Cys3295Tyr
NM_206933.3:c.9884G>A NP_996816.2:p.Cys3295Tyr
NM_206933.4:c.9884G>A MANE Select NP_996816.3:p.Cys3295Tyr
Search 100 bp 5'
Search 100 bp 3'