Canonical Allele Identifier: CA2586968183

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215799096dup , CM000663.2:g.215799096dup	GRCh38
NC_000001.10:g.215972438dup , CM000663.1:g.215972438dup	GRCh37
NC_000001.9:g.214039061dup	NCBI36
NG_009497.1:g.629302dup
NG_009497.2:g.629354dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9770dup MANE Select	ENSP00000305941.3:p.Asn3257LysfsTer9
ENST00000674083.1:c.9770dup	ENSP00000501296.1:p.Asn3257LysfsTer9
ENST00000307340.7:c.9770dup	ENSP00000305941.3:p.Asn3257LysfsTer9
NM_206933.2:c.9770dup	NP_996816.2:p.Asn3257LysfsTer9
NM_206933.3:c.9770dup	NP_996816.2:p.Asn3257LysfsTer9
NM_206933.4:c.9770dup MANE Select	NP_996816.3:p.Asn3257LysfsTer9