Canonical Allele Identifier: CA2747716495
Gene: USH2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215640829_215640830dup , CM000663.2:g.215640829_215640830dup GRCh38
NC_000001.10:g.215814171_215814172dup , CM000663.1:g.215814171_215814172dup GRCh37
NC_000001.9:g.213880794_213880795dup NCBI36
NG_009497.1:g.787567_787568dup
NG_009497.2:g.787619_787620dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.14792-96_14792-95dup MANE Select ENSP00000305941.3:n.14792-96_14792-95dup
ENST00000674083.1:c.14792-96_14792-95dup ENSP00000501296.1:n.14792-96_14792-95dup
ENST00000307340.7:c.14792-96_14792-95dup ENSP00000305941.3:n.14792-96_14792-95dup
NM_206933.2:c.14792-96_14792-95dup NP_996816.2:n.14792-96_14792-95dup
NM_206933.3:c.14792-96_14792-95dup NP_996816.2:n.14792-96_14792-95dup
NM_206933.4:c.14792-96_14792-95dup MANE Select NP_996816.3:n.14792-96_14792-95dup