Canonical Allele Identifier: CA1581267344

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330606C= , CM000667.2:g.128330606C=	GRCh38
NC_000005.9:g.127666298C= , CM000667.1:g.127666298C=	GRCh37
NC_000005.8:g.127694197C=	NCBI36
NG_008750.1:g.212438G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1096G=
ENST00000703785.1:n.1177G=
ENST00000262464.9:c.4312G= MANE Select	ENSP00000262464.4:p.Glu1438=
ENST00000262464.8:c.4312G=	ENSP00000262464.4:p.Glu1438=
ENST00000507835.5:c.862G=	ENSP00000426839.1:p.Glu288=
ENST00000508053.5:c.4312G=	ENSP00000424571.1:p.Glu1438=
ENST00000508989.5:c.4213G=	ENSP00000425596.1:p.Glu1405=
ENST00000619499.4:c.4309G=	ENSP00000482132.1:p.Glu1437=
NM_001999.3:c.4312G=	NP_001990.2:p.Glu1438=
XM_017009228.2:c.4159G=	XP_016864717.1:p.Glu1387=
NM_001999.4:c.4312G= MANE Select	NP_001990.2:p.Glu1438=