Canonical Allele Identifier: CA344865482
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs2036068018

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216247158G>T , CM000663.2:g.216247158G>T GRCh38
NC_000001.10:g.216420500G>T , CM000663.1:g.216420500G>T GRCh37
NC_000001.9:g.214487123G>T NCBI36
NG_009497.1:g.181239C>A
NG_009497.2:g.181291C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2236C>A MANE Select ENSP00000305941.3:p.Pro746Thr
ENST00000674083.1:c.2236C>A ENSP00000501296.1:p.Pro746Thr
ENST00000307340.7:c.2236C>A ENSP00000305941.3:p.Pro746Thr
ENST00000366942.3:c.2236C>A ENSP00000355909.3:p.Pro746Thr
NM_007123.5:c.2236C>A NP_009054.5:p.Pro746Thr
NM_206933.2:c.2236C>A NP_996816.2:p.Pro746Thr
NM_206933.3:c.2236C>A NP_996816.2:p.Pro746Thr
NM_007123.6:c.2236C>A NP_009054.6:p.Pro746Thr
NM_206933.4:c.2236C>A MANE Select NP_996816.3:p.Pro746Thr