Canonical Allele Identifier: CA1581268415

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128333024C= , CM000667.2:g.128333024C=	GRCh38
NC_000005.9:g.127668716C= , CM000667.1:g.127668716C=	GRCh37
NC_000005.8:g.127696615C=	NCBI36
NG_008750.1:g.210020G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.894G=
ENST00000703785.1:n.975G=
ENST00000262464.9:c.4110G= MANE Select	ENSP00000262464.4:p.Glu1370=
ENST00000262464.8:c.4110G=	ENSP00000262464.4:p.Glu1370=
ENST00000507835.5:c.660G=	ENSP00000426839.1:p.Glu220=
ENST00000508053.5:c.4110G=	ENSP00000424571.1:p.Glu1370=
ENST00000508989.5:c.4011G=	ENSP00000425596.1:p.Glu1337=
ENST00000619499.4:c.4107G=	ENSP00000482132.1:p.Glu1369=
NM_001999.3:c.4110G=	NP_001990.2:p.Glu1370=
XM_017009228.2:c.3957G=	XP_016864717.1:p.Glu1319=
NM_001999.4:c.4110G= MANE Select	NP_001990.2:p.Glu1370=