Canonical Allele Identifier: CA1220432915

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215813809A= , CM000663.2:g.215813809A=	GRCh38
NC_000001.10:g.215987151A= , CM000663.1:g.215987151A=	GRCh37
NC_000001.9:g.214053774A=	NCBI36
NG_009497.1:g.614588T=
NG_009497.2:g.614640T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9666T= MANE Select	ENSP00000305941.3:p.Cys3222=
ENST00000674083.1:c.9666T=	ENSP00000501296.1:p.Cys3222=
ENST00000307340.7:c.9666T=	ENSP00000305941.3:p.Cys3222=
NM_206933.2:c.9666T=	NP_996816.2:p.Cys3222=
NM_206933.3:c.9666T=	NP_996816.2:p.Cys3222=
NM_206933.4:c.9666T= MANE Select	NP_996816.3:p.Cys3222=