Canonical Allele Identifier: CA1581269611

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335509C= , CM000667.2:g.128335509C=	GRCh38
NC_000005.9:g.127671201C= , CM000667.1:g.127671201C=	GRCh37
NC_000005.8:g.127699100C=	NCBI36
NG_008750.1:g.207535G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.577G=
ENST00000703785.1:n.658G=
ENST00000262464.9:c.3793G= MANE Select	ENSP00000262464.4:p.Glu1265=
ENST00000262464.8:c.3793G=	ENSP00000262464.4:p.Glu1265=
ENST00000507835.5:c.343G=	ENSP00000426839.1:p.Glu115=
ENST00000508053.5:c.3793G=	ENSP00000424571.1:p.Glu1265=
ENST00000508989.5:c.3694G=	ENSP00000425596.1:p.Glu1232=
ENST00000619499.4:c.3790G=	ENSP00000482132.1:p.Glu1264=
NM_001999.3:c.3793G=	NP_001990.2:p.Glu1265=
XM_017009228.2:c.3640G=	XP_016864717.1:p.Glu1214=
NM_001999.4:c.3793G= MANE Select	NP_001990.2:p.Glu1265=