Canonical Allele Identifier: CA1220414179

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215779670G= , CM000663.2:g.215779670G=	GRCh38
NC_000001.10:g.215953012G= , CM000663.1:g.215953012G=	GRCh37
NC_000001.9:g.214019635G=	NCBI36
NG_009497.1:g.648727C=
NG_009497.2:g.648779C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10939+173C= MANE Select	ENSP00000305941.3:n.10939+173C=
ENST00000674083.1:c.10939+173C=	ENSP00000501296.1:n.10939+173C=
ENST00000307340.7:c.10939+173C=	ENSP00000305941.3:n.10939+173C=
NM_206933.2:c.10939+173C=	NP_996816.2:n.10939+173C=
NM_206933.3:c.10939+173C=	NP_996816.2:n.10939+173C=
NM_206933.4:c.10939+173C= MANE Select	NP_996816.3:n.10939+173C=