Canonical Allele Identifier: CA1220416637
Gene: USH2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215782038T= , CM000663.2:g.215782038T= GRCh38
NC_000001.10:g.215955380T= , CM000663.1:g.215955380T= GRCh37
NC_000001.9:g.214022003T= NCBI36
NG_009497.1:g.646359A=
NG_009497.2:g.646411A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10740+4A= MANE Select ENSP00000305941.3:n.10740+4A=
ENST00000674083.1:c.10740+4A= ENSP00000501296.1:n.10740+4A=
ENST00000307340.7:c.10740+4A= ENSP00000305941.3:n.10740+4A=
NM_206933.2:c.10740+4A= NP_996816.2:n.10740+4A=
NM_206933.3:c.10740+4A= NP_996816.2:n.10740+4A=
NM_206933.4:c.10740+4A= MANE Select NP_996816.3:n.10740+4A=