Canonical Allele Identifier: CA1148301386

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215780005T= , CM000663.2:g.215780005T=	GRCh38
NC_000001.10:g.215953347T= , CM000663.1:g.215953347T=	GRCh37
NC_000001.9:g.214019970T=	NCBI36
NG_009497.1:g.648392A=
NG_009497.2:g.648444A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10777A= MANE Select	ENSP00000305941.3:p.Ile3593=
ENST00000674083.1:c.10777A=	ENSP00000501296.1:p.Ile3593=
ENST00000307340.7:c.10777A=	ENSP00000305941.3:p.Ile3593=
NM_206933.2:c.10777A=	NP_996816.2:p.Ile3593=
NM_206933.3:c.10777A=	NP_996816.2:p.Ile3593=
NM_206933.4:c.10777A= MANE Select	NP_996816.3:p.Ile3593=