Canonical Allele Identifier: CA1581269609

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335499C= , CM000667.2:g.128335499C=	GRCh38
NC_000005.9:g.127671191C= , CM000667.1:g.127671191C=	GRCh37
NC_000005.8:g.127699090C=	NCBI36
NG_008750.1:g.207545G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.587G=
ENST00000703785.1:n.668G=
ENST00000262464.9:c.3803G= MANE Select	ENSP00000262464.4:p.Cys1268=
ENST00000262464.8:c.3803G=	ENSP00000262464.4:p.Cys1268=
ENST00000507835.5:c.353G=	ENSP00000426839.1:p.Cys118=
ENST00000508053.5:c.3803G=	ENSP00000424571.1:p.Cys1268=
ENST00000508989.5:c.3704G=	ENSP00000425596.1:p.Cys1235=
ENST00000619499.4:c.3800G=	ENSP00000482132.1:p.Cys1267=
NM_001999.3:c.3803G=	NP_001990.2:p.Cys1268=
XM_017009228.2:c.3650G=	XP_016864717.1:p.Cys1217=
NM_001999.4:c.3803G= MANE Select	NP_001990.2:p.Cys1268=