Canonical Allele Identifier: CA344862298
Gene: USH2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216070294T>G , CM000663.2:g.216070294T>G GRCh38
NC_000001.10:g.216243636T>G , CM000663.1:g.216243636T>G GRCh37
NC_000001.9:g.214310259T>G NCBI36
NG_009497.1:g.358103A>C
NG_009497.2:g.358155A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.5858-2A>C MANE Select ENSP00000305941.3:n.5858-2A>C
ENST00000674083.1:c.5858-2A>C ENSP00000501296.1:n.5858-2A>C
ENST00000307340.7:c.5858-2A>C ENSP00000305941.3:n.5858-2A>C
NM_206933.2:c.5858-2A>C NP_996816.2:n.5858-2A>C
NM_206933.3:c.5858-2A>C NP_996816.2:n.5858-2A>C
NM_206933.4:c.5858-2A>C MANE Select NP_996816.3:n.5858-2A>C