Canonical Allele Identifier: CA37410076
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs145803438

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215671072G>A , CM000663.2:g.215671072G>A GRCh38
NC_000001.10:g.215844414G>A , CM000663.1:g.215844414G>A GRCh37
NC_000001.9:g.213911037G>A NCBI36
NG_009497.1:g.757325C>T
NG_009497.2:g.757377C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.14033C>T MANE Select ENSP00000305941.3:p.Ala4678Val
ENST00000674083.1:c.14033C>T ENSP00000501296.1:p.Ala4678Val
ENST00000307340.7:c.14033C>T ENSP00000305941.3:p.Ala4678Val
NM_206933.2:c.14033C>T NP_996816.2:p.Ala4678Val
NM_206933.3:c.14033C>T NP_996816.2:p.Ala4678Val
NM_206933.4:c.14033C>T MANE Select NP_996816.3:p.Ala4678Val