Canonical Allele Identifier: CA16609670
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 501315
dbSNP Id: rs201730567

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215766680C>T , CM000663.2:g.215766680C>T GRCh38
NC_000001.10:g.215940022C>T , CM000663.1:g.215940022C>T GRCh37
NC_000001.9:g.214006645C>T NCBI36
NG_009497.1:g.661717G>A
NG_009497.2:g.661769G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11047+1G>A MANE Select ENSP00000305941.3:n.11047+1G>A
ENST00000674083.1:c.11047+1G>A ENSP00000501296.1:n.11047+1G>A
ENST00000307340.7:c.11047+1G>A ENSP00000305941.3:n.11047+1G>A
NM_206933.2:c.11047+1G>A NP_996816.2:n.11047+1G>A
NM_206933.3:c.11047+1G>A NP_996816.2:n.11047+1G>A
NM_206933.4:c.11047+1G>A MANE Select NP_996816.3:n.11047+1G>A