Canonical Allele Identifier: CA37448510
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1920595
ClinVar RCV Id: RCV002591232
dbSNP Id: rs923721014

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215798951T>G , CM000663.2:g.215798951T>G GRCh38
NC_000001.10:g.215972293T>G , CM000663.1:g.215972293T>G GRCh37
NC_000001.9:g.214038916T>G NCBI36
NG_009497.1:g.629446A>C
NG_009497.2:g.629498A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9914A>C MANE Select ENSP00000305941.3:p.Glu3305Ala
ENST00000674083.1:c.9914A>C ENSP00000501296.1:p.Glu3305Ala
ENST00000307340.7:c.9914A>C ENSP00000305941.3:p.Glu3305Ala
NM_206933.2:c.9914A>C NP_996816.2:p.Glu3305Ala
NM_206933.3:c.9914A>C NP_996816.2:p.Glu3305Ala
NM_206933.4:c.9914A>C MANE Select NP_996816.3:p.Glu3305Ala