Canonical Allele Identifier: CA1220426426
Gene: USH2A HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215799274C= , CM000663.2:g.215799274C= GRCh38
NC_000001.10:g.215972616C= , CM000663.1:g.215972616C= GRCh37
NC_000001.9:g.214039239C= NCBI36
NG_009497.1:g.629123G=
NG_009497.2:g.629175G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9740-149G= MANE Select ENSP00000305941.3:n.9740-149G=
ENST00000674083.1:c.9740-149G= ENSP00000501296.1:n.9740-149G=
ENST00000307340.7:c.9740-149G= ENSP00000305941.3:n.9740-149G=
NM_206933.2:c.9740-149G= NP_996816.2:n.9740-149G=
NM_206933.3:c.9740-149G= NP_996816.2:n.9740-149G=
NM_206933.4:c.9740-149G= MANE Select NP_996816.3:n.9740-149G=
Search 100 bp 5'
Search 100 bp 3'