Canonical Allele Identifier: CA1581269503

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335263A= , CM000667.2:g.128335263A=	GRCh38
NC_000005.9:g.127670955A= , CM000667.1:g.127670955A=	GRCh37
NC_000005.8:g.127698854A=	NCBI36
NG_008750.1:g.207781T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.664T=
ENST00000703785.1:n.745T=
ENST00000262464.9:c.3880T= MANE Select	ENSP00000262464.4:p.Cys1294=
ENST00000262464.8:c.3880T=	ENSP00000262464.4:p.Cys1294=
ENST00000507835.5:c.430T=	ENSP00000426839.1:p.Cys144=
ENST00000508053.5:c.3880T=	ENSP00000424571.1:p.Cys1294=
ENST00000508989.5:c.3781T=	ENSP00000425596.1:p.Cys1261=
ENST00000619499.4:c.3877T=	ENSP00000482132.1:p.Cys1293=
NM_001999.3:c.3880T=	NP_001990.2:p.Cys1294=
XM_017009228.2:c.3727T=	XP_016864717.1:p.Cys1243=
NM_001999.4:c.3880T= MANE Select	NP_001990.2:p.Cys1294=