Canonical Allele Identifier: CA143292
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48400
dbSNP Id: rs112120466

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675354A>G , CM000663.2:g.215675354A>G GRCh38
NC_000001.10:g.215848696A>G , CM000663.1:g.215848696A>G GRCh37
NC_000001.9:g.213915319A>G NCBI36
NG_009497.1:g.753043T>C
NG_009497.2:g.753095T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12557T>C MANE Select ENSP00000305941.3:p.Ile4186Thr
ENST00000674083.1:c.12557T>C ENSP00000501296.1:p.Ile4186Thr
ENST00000307340.7:c.12557T>C ENSP00000305941.3:p.Ile4186Thr
NM_206933.2:c.12557T>C NP_996816.2:p.Ile4186Thr
NM_206933.3:c.12557T>C NP_996816.2:p.Ile4186Thr
NM_206933.4:c.12557T>C MANE Select NP_996816.3:p.Ile4186Thr