Canonical Allele Identifier: CA1220372167

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215671142G= , CM000663.2:g.215671142G=	GRCh38
NC_000001.10:g.215844484G= , CM000663.1:g.215844484G=	GRCh37
NC_000001.9:g.213911107G=	NCBI36
NG_009497.1:g.757255C=
NG_009497.2:g.757307C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.13963C= MANE Select	ENSP00000305941.3:p.Leu4655=
ENST00000674083.1:c.13963C=	ENSP00000501296.1:p.Leu4655=
ENST00000307340.7:c.13963C=	ENSP00000305941.3:p.Leu4655=
NM_206933.2:c.13963C=	NP_996816.2:p.Leu4655=
NM_206933.3:c.13963C=	NP_996816.2:p.Leu4655=
NM_206933.4:c.13963C= MANE Select	NP_996816.3:p.Leu4655=