Canonical Allele Identifier: CA1396771
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 372543
dbSNP Id: rs374536346

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216418693C>T , CM000663.2:g.216418693C>T GRCh38
NC_000001.10:g.216592035C>T , CM000663.1:g.216592035C>T GRCh37
NC_000001.9:g.214658658C>T NCBI36
NG_009497.1:g.9704G>A
NG_009497.2:g.9756G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.486-14G>A MANE Select ENSP00000305941.3:n.486-14G>A
ENST00000674083.1:c.486-14G>A ENSP00000501296.1:n.486-14G>A
ENST00000307340.7:c.486-14G>A ENSP00000305941.3:n.486-14G>A
ENST00000366942.3:c.486-14G>A ENSP00000355909.3:n.486-14G>A
NM_007123.5:c.486-14G>A NP_009054.5:n.486-14G>A
NM_206933.2:c.486-14G>A NP_996816.2:n.486-14G>A
NM_206933.3:c.486-14G>A NP_996816.2:n.486-14G>A
NM_007123.6:c.486-14G>A NP_009054.6:n.486-14G>A
NM_206933.4:c.486-14G>A MANE Select NP_996816.3:n.486-14G>A