Canonical Allele Identifier: CA143284
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48396
dbSNP Id: rs142095945

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675579G>A , CM000663.2:g.215675579G>A GRCh38
NC_000001.10:g.215848921G>A , CM000663.1:g.215848921G>A GRCh37
NC_000001.9:g.213915544G>A NCBI36
NG_009497.1:g.752818C>T
NG_009497.2:g.752870C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12332C>T MANE Select ENSP00000305941.3:p.Ser4111Phe
ENST00000674083.1:c.12332C>T ENSP00000501296.1:p.Ser4111Phe
ENST00000307340.7:c.12332C>T ENSP00000305941.3:p.Ser4111Phe
NM_206933.2:c.12332C>T NP_996816.2:p.Ser4111Phe
NM_206933.3:c.12332C>T NP_996816.2:p.Ser4111Phe
NM_206933.4:c.12332C>T MANE Select NP_996816.3:p.Ser4111Phe