Canonical Allele Identifier: CA1581268399

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332983C= , CM000667.2:g.128332983C=	GRCh38
NC_000005.9:g.127668675C= , CM000667.1:g.127668675C=	GRCh37
NC_000005.8:g.127696574C=	NCBI36
NG_008750.1:g.210061G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.935G=
ENST00000703785.1:n.1016G=
ENST00000262464.9:c.4151G= MANE Select	ENSP00000262464.4:p.Cys1384=
ENST00000262464.8:c.4151G=	ENSP00000262464.4:p.Cys1384=
ENST00000507835.5:c.701G=	ENSP00000426839.1:p.Cys234=
ENST00000508053.5:c.4151G=	ENSP00000424571.1:p.Cys1384=
ENST00000508989.5:c.4052G=	ENSP00000425596.1:p.Cys1351=
ENST00000619499.4:c.4148G=	ENSP00000482132.1:p.Cys1383=
NM_001999.3:c.4151G=	NP_001990.2:p.Cys1384=
XM_017009228.2:c.3998G=	XP_016864717.1:p.Cys1333=
NM_001999.4:c.4151G= MANE Select	NP_001990.2:p.Cys1384=