Canonical Allele Identifier: CA1393616
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1500956
ClinVar RCV Id: RCV002017101
dbSNP Id: rs753038400

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728284A>G , CM000663.2:g.215728284A>G GRCh38
NC_000001.10:g.215901626A>G , CM000663.1:g.215901626A>G GRCh37
NC_000001.9:g.213968249A>G NCBI36
NG_009497.1:g.700113T>C
NG_009497.2:g.700165T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11812T>C MANE Select ENSP00000305941.3:p.Tyr3938His
ENST00000674083.1:c.11812T>C ENSP00000501296.1:p.Tyr3938His
ENST00000307340.7:c.11812T>C ENSP00000305941.3:p.Tyr3938His
NM_206933.2:c.11812T>C NP_996816.2:p.Tyr3938His
NM_206933.3:c.11812T>C NP_996816.2:p.Tyr3938His
NM_206933.4:c.11812T>C MANE Select NP_996816.3:p.Tyr3938His