Canonical Allele Identifier: CA1220446641
Gene: USH2A HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215845749G= , CM000663.2:g.215845749G= GRCh38
NC_000001.10:g.216019091G= , CM000663.1:g.216019091G= GRCh37
NC_000001.9:g.214085714G= NCBI36
NG_009497.1:g.582648C=
NG_009497.2:g.582700C=

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.9055+75C= MANE Select ENSP00000305941.3:n.9055+75C=
ENST00000674083.1:c.9055+75C= ENSP00000501296.1:n.9055+75C=
ENST00000307340.7:c.9055+75C= ENSP00000305941.3:n.9055+75C=
NM_206933.2:c.9055+75C= NP_996816.2:n.9055+75C=
NM_206933.3:c.9055+75C= NP_996816.2:n.9055+75C=
NM_206933.4:c.9055+75C= MANE Select NP_996816.3:n.9055+75C=
Search 100 bp 5'
Search 100 bp 3'