Canonical Allele Identifier: CA270143
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 143174
dbSNP Id: rs527236124

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215671258C>A , CM000663.2:g.215671258C>A GRCh38
NC_000001.10:g.215844600C>A , CM000663.1:g.215844600C>A GRCh37
NC_000001.9:g.213911223C>A NCBI36
NG_009497.1:g.757139G>T
NG_009497.2:g.757191G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.13847G>T MANE Select ENSP00000305941.3:p.Gly4616Val
ENST00000674083.1:c.13847G>T ENSP00000501296.1:p.Gly4616Val
ENST00000307340.7:c.13847G>T ENSP00000305941.3:p.Gly4616Val
NM_206933.2:c.13847G>T NP_996816.2:p.Gly4616Val
NM_206933.3:c.13847G>T NP_996816.2:p.Gly4616Val
NM_206933.4:c.13847G>T MANE Select NP_996816.3:p.Gly4616Val