Canonical Allele Identifier: CA344848876
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1518640
ClinVar RCV Id: RCV002043517
dbSNP Id: rs2102778597
MyVariant Identifiers: chr1:g.215972326C>A (hg19) chr1:g.215798984C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215798984C>A , CM000663.2:g.215798984C>A GRCh38
NC_000001.10:g.215972326C>A , CM000663.1:g.215972326C>A GRCh37
NC_000001.9:g.214038949C>A NCBI36
NG_009497.1:g.629413G>T
NG_009497.2:g.629465G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9881G>T MANE Select ENSP00000305941.3:p.Cys3294Phe
ENST00000674083.1:c.9881G>T ENSP00000501296.1:p.Cys3294Phe
ENST00000307340.7:c.9881G>T ENSP00000305941.3:p.Cys3294Phe
NM_206933.2:c.9881G>T NP_996816.2:p.Cys3294Phe
NM_206933.3:c.9881G>T NP_996816.2:p.Cys3294Phe
NM_206933.4:c.9881G>T MANE Select NP_996816.3:p.Cys3294Phe
Search 100 bp 5'
Search 100 bp 3'