Canonical Allele Identifier: CA143485
Gene: USH2A HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216175347G>A , CM000663.2:g.216175347G>A GRCh38
NC_000001.10:g.216348689G>A , CM000663.1:g.216348689G>A GRCh37
NC_000001.9:g.214415312G>A NCBI36
NG_009497.1:g.253050C>T
NG_009497.2:g.253102C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.4532C>T MANE Select ENSP00000305941.3:p.Ala1511Val
ENST00000674083.1:c.4532C>T ENSP00000501296.1:p.Ala1511Val
ENST00000307340.7:c.4532C>T ENSP00000305941.3:p.Ala1511Val
ENST00000366942.3:c.4532C>T ENSP00000355909.3:p.Ala1511Val
NM_007123.5:c.4532C>T NP_009054.5:p.Ala1511Val
NM_206933.2:c.4532C>T NP_996816.2:p.Ala1511Val
NM_206933.3:c.4532C>T NP_996816.2:p.Ala1511Val
NM_007123.6:c.4532C>T NP_009054.6:p.Ala1511Val
NM_206933.4:c.4532C>T MANE Select NP_996816.3:p.Ala1511Val