Canonical Allele Identifier: CA1581269502

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335262C= , CM000667.2:g.128335262C=	GRCh38
NC_000005.9:g.127670954C= , CM000667.1:g.127670954C=	GRCh37
NC_000005.8:g.127698853C=	NCBI36
NG_008750.1:g.207782G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.665G=
ENST00000703785.1:n.746G=
ENST00000262464.9:c.3881G= MANE Select	ENSP00000262464.4:p.Cys1294=
ENST00000262464.8:c.3881G=	ENSP00000262464.4:p.Cys1294=
ENST00000507835.5:c.431G=	ENSP00000426839.1:p.Cys144=
ENST00000508053.5:c.3881G=	ENSP00000424571.1:p.Cys1294=
ENST00000508989.5:c.3782G=	ENSP00000425596.1:p.Cys1261=
ENST00000619499.4:c.3878G=	ENSP00000482132.1:p.Cys1293=
NM_001999.3:c.3881G=	NP_001990.2:p.Cys1294=
XM_017009228.2:c.3728G=	XP_016864717.1:p.Cys1243=
NM_001999.4:c.3881G= MANE Select	NP_001990.2:p.Cys1294=