Canonical Allele Identifier: CA37501370
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2543482
ClinVar RCV Id: RCV003287296
dbSNP Id: rs988419427

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216246983G>A , CM000663.2:g.216246983G>A GRCh38
NC_000001.10:g.216420325G>A , CM000663.1:g.216420325G>A GRCh37
NC_000001.9:g.214486948G>A NCBI36
NG_009497.1:g.181414C>T
NG_009497.2:g.181466C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2411C>T MANE Select ENSP00000305941.3:p.Pro804Leu
ENST00000674083.1:c.2411C>T ENSP00000501296.1:p.Pro804Leu
ENST00000307340.7:c.2411C>T ENSP00000305941.3:p.Pro804Leu
ENST00000366942.3:c.2411C>T ENSP00000355909.3:p.Pro804Leu
NM_007123.5:c.2411C>T NP_009054.5:p.Pro804Leu
NM_206933.2:c.2411C>T NP_996816.2:p.Pro804Leu
NM_206933.3:c.2411C>T NP_996816.2:p.Pro804Leu
NM_007123.6:c.2411C>T NP_009054.6:p.Pro804Leu
NM_206933.4:c.2411C>T MANE Select NP_996816.3:p.Pro804Leu