Canonical Allele Identifier: CA1220434444
Gene: USH2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215817351T= , CM000663.2:g.215817351T= GRCh38
NC_000001.10:g.215990693T= , CM000663.1:g.215990693T= GRCh37
NC_000001.9:g.214057316T= NCBI36
NG_009497.1:g.611046A=
NG_009497.2:g.611098A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9372-156A= MANE Select ENSP00000305941.3:n.9372-156A=
ENST00000674083.1:c.9372-156A= ENSP00000501296.1:n.9372-156A=
ENST00000307340.7:c.9372-156A= ENSP00000305941.3:n.9372-156A=
NM_206933.2:c.9372-156A= NP_996816.2:n.9372-156A=
NM_206933.3:c.9372-156A= NP_996816.2:n.9372-156A=
NM_206933.4:c.9372-156A= MANE Select NP_996816.3:n.9372-156A=