Canonical Allele Identifier: CA179546
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 166481
dbSNP Id: rs140487302
COSMIC: COSM903922

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215998954G>A , CM000663.2:g.215998954G>A GRCh38
NC_000001.10:g.216172296G>A , CM000663.1:g.216172296G>A GRCh37
NC_000001.9:g.214238919G>A NCBI36
NG_009497.1:g.429443C>T
NG_009497.2:g.429495C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.6590C>T MANE Select ENSP00000305941.3:p.Thr2197Ile
ENST00000674083.1:c.6590C>T ENSP00000501296.1:p.Thr2197Ile
ENST00000307340.7:c.6590C>T ENSP00000305941.3:p.Thr2197Ile
NM_206933.2:c.6590C>T NP_996816.2:p.Thr2197Ile
NM_206933.3:c.6590C>T NP_996816.2:p.Thr2197Ile
NM_206933.4:c.6590C>T MANE Select NP_996816.3:p.Thr2197Ile