Canonical Allele Identifier: CA1581271189

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338989T= , CM000667.2:g.128338989T=	GRCh38
NC_000005.9:g.127674681T= , CM000667.1:g.127674681T=	GRCh37
NC_000005.8:g.127702580T=	NCBI36
NG_008750.1:g.204055A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.200A=
ENST00000703785.1:n.281A=
ENST00000262464.9:c.3416A= MANE Select	ENSP00000262464.4:p.Glu1139=
ENST00000262464.8:c.3416A=	ENSP00000262464.4:p.Glu1139=
ENST00000507835.5:c.-35A=	ENSP00000426839.1:n.-35A=
ENST00000508053.5:c.3416A=	ENSP00000424571.1:p.Glu1139=
ENST00000508989.5:c.3317A=	ENSP00000425596.1:p.Glu1106=
ENST00000619499.4:c.3413A=	ENSP00000482132.1:p.Glu1138=
NM_001999.3:c.3416A=	NP_001990.2:p.Glu1139=
XM_017009228.2:c.3263A=	XP_016864717.1:p.Glu1088=
NM_001999.4:c.3416A= MANE Select	NP_001990.2:p.Glu1139=