Canonical Allele Identifier: CA2747720794

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215780136_215780137insACAA , CM000663.2:g.215780136_215780137insACAA	GRCh38
NC_000001.10:g.215953478_215953479insACAA , CM000663.1:g.215953478_215953479insACAA	GRCh37
NC_000001.9:g.214020101_214020102insACAA	NCBI36
NG_009497.1:g.648260_648261insTTGT
NG_009497.2:g.648312_648313insTTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10741-96_10741-95insTTGT MANE Select	ENSP00000305941.3:n.10741-96_10741-95insTTGT
ENST00000674083.1:c.10741-96_10741-95insTTGT	ENSP00000501296.1:n.10741-96_10741-95insTTGT
ENST00000307340.7:c.10741-96_10741-95insTTGT	ENSP00000305941.3:n.10741-96_10741-95insTTGT
NM_206933.2:c.10741-96_10741-95insTTGT	NP_996816.2:n.10741-96_10741-95insTTGT
NM_206933.3:c.10741-96_10741-95insTTGT	NP_996816.2:n.10741-96_10741-95insTTGT
NM_206933.4:c.10741-96_10741-95insTTGT MANE Select	NP_996816.3:n.10741-96_10741-95insTTGT