Canonical Allele Identifier: CA1581268390

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332950C= , CM000667.2:g.128332950C=	GRCh38
NC_000005.9:g.127668642C= , CM000667.1:g.127668642C=	GRCh37
NC_000005.8:g.127696541C=	NCBI36
NG_008750.1:g.210094G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.968G=
ENST00000703785.1:n.1049G=
ENST00000262464.9:c.4184G= MANE Select	ENSP00000262464.4:p.Cys1395=
ENST00000262464.8:c.4184G=	ENSP00000262464.4:p.Cys1395=
ENST00000507835.5:c.734G=	ENSP00000426839.1:p.Cys245=
ENST00000508053.5:c.4184G=	ENSP00000424571.1:p.Cys1395=
ENST00000508989.5:c.4085G=	ENSP00000425596.1:p.Cys1362=
ENST00000619499.4:c.4181G=	ENSP00000482132.1:p.Cys1394=
NM_001999.3:c.4184G=	NP_001990.2:p.Cys1395=
XM_017009228.2:c.4031G=	XP_016864717.1:p.Cys1344=
NM_001999.4:c.4184G= MANE Select	NP_001990.2:p.Cys1395=