Canonical Allele Identifier: CA1394291
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 228418
dbSNP Id: rs760225886

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215816996C>T , CM000663.2:g.215816996C>T GRCh38
NC_000001.10:g.215990338C>T , CM000663.1:g.215990338C>T GRCh37
NC_000001.9:g.214056961C>T NCBI36
NG_009497.1:g.611401G>A
NG_009497.2:g.611453G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9570+1G>A MANE Select ENSP00000305941.3:n.9570+1G>A
ENST00000674083.1:c.9570+1G>A ENSP00000501296.1:n.9570+1G>A
ENST00000307340.7:c.9570+1G>A ENSP00000305941.3:n.9570+1G>A
NM_206933.2:c.9570+1G>A NP_996816.2:n.9570+1G>A
NM_206933.3:c.9570+1G>A NP_996816.2:n.9570+1G>A
NM_206933.4:c.9570+1G>A MANE Select NP_996816.3:n.9570+1G>A