Canonical Allele Identifier: CA143243
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48364
dbSNP Id: rs140548353

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215766720C>T , CM000663.2:g.215766720C>T GRCh38
NC_000001.10:g.215940062C>T , CM000663.1:g.215940062C>T GRCh37
NC_000001.9:g.214006685C>T NCBI36
NG_009497.1:g.661677G>A
NG_009497.2:g.661729G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11008G>A MANE Select ENSP00000305941.3:p.Glu3670Lys
ENST00000674083.1:c.11008G>A ENSP00000501296.1:p.Glu3670Lys
ENST00000307340.7:c.11008G>A ENSP00000305941.3:p.Glu3670Lys
NM_206933.2:c.11008G>A NP_996816.2:p.Glu3670Lys
NM_206933.3:c.11008G>A NP_996816.2:p.Glu3670Lys
NM_206933.4:c.11008G>A MANE Select NP_996816.3:p.Glu3670Lys