Canonical Allele Identifier: CA1220432949

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215813907G= , CM000663.2:g.215813907G=	GRCh38
NC_000001.10:g.215987249G= , CM000663.1:g.215987249G=	GRCh37
NC_000001.9:g.214053872G=	NCBI36
NG_009497.1:g.614490C=
NG_009497.2:g.614542C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.9571-3C= MANE Select	ENSP00000305941.3:n.9571-3C=
ENST00000674083.1:c.9571-3C=	ENSP00000501296.1:n.9571-3C=
ENST00000307340.7:c.9571-3C=	ENSP00000305941.3:n.9571-3C=
NM_206933.2:c.9571-3C=	NP_996816.2:n.9571-3C=
NM_206933.3:c.9571-3C=	NP_996816.2:n.9571-3C=
NM_206933.4:c.9571-3C= MANE Select	NP_996816.3:n.9571-3C=