Canonical Allele Identifier: CA1581271200

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128339015G= , CM000667.2:g.128339015G=	GRCh38
NC_000005.9:g.127674707G= , CM000667.1:g.127674707G=	GRCh37
NC_000005.8:g.127702606G=	NCBI36
NG_008750.1:g.204029C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.174C=
ENST00000703785.1:n.255C=
ENST00000262464.9:c.3390C= MANE Select	ENSP00000262464.4:p.Ile1130=
ENST00000262464.8:c.3390C=	ENSP00000262464.4:p.Ile1130=
ENST00000507835.5:c.-61C=	ENSP00000426839.1:n.-61C=
ENST00000508053.5:c.3390C=	ENSP00000424571.1:p.Ile1130=
ENST00000508989.5:c.3291C=	ENSP00000425596.1:p.Ile1097=
ENST00000619499.4:c.3387C=	ENSP00000482132.1:p.Ile1129=
NM_001999.3:c.3390C=	NP_001990.2:p.Ile1130=
XM_017009228.2:c.3237C=	XP_016864717.1:p.Ile1079=
NM_001999.4:c.3390C= MANE Select	NP_001990.2:p.Ile1130=