Canonical Allele Identifier: CA143458
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48497
dbSNP Id: rs397518010

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216207437T>C , CM000663.2:g.216207437T>C GRCh38
NC_000001.10:g.216380779T>C , CM000663.1:g.216380779T>C GRCh37
NC_000001.9:g.214447402T>C NCBI36
NG_009497.1:g.220960A>G
NG_009497.2:g.221012A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.3158-6A>G MANE Select ENSP00000305941.3:p.=
ENST00000674083.1:c.3158-6A>G ENSP00000501296.1:p.=
ENST00000307340.7:c.3158-6A>G ENSP00000305941.3:p.=
ENST00000366942.3:c.3158-6A>G ENSP00000355909.3:p.=
NM_007123.5:c.3158-6A>G NP_009054.5:p.=
NM_206933.2:c.3158-6A>G NP_996816.2:p.=
XR_922596.1:n.354+11512T>C
XR_922597.1:n.354+11512T>C
XR_922596.3:n.1076+11512T>C
NM_206933.3:c.3158-6A>G NP_996816.2:p.=
NM_007123.6:c.3158-6A>G NP_009054.6:p.=
NM_206933.4:c.3158-6A>G MANE Select NP_996816.3:p.=