Canonical Allele Identifier: CA1581269626

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335544C= , CM000667.2:g.128335544C=	GRCh38
NC_000005.9:g.127671236C= , CM000667.1:g.127671236C=	GRCh37
NC_000005.8:g.127699135C=	NCBI36
NG_008750.1:g.207500G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.542G=
ENST00000703785.1:n.623G=
ENST00000262464.9:c.3758G= MANE Select	ENSP00000262464.4:p.Cys1253=
ENST00000262464.8:c.3758G=	ENSP00000262464.4:p.Cys1253=
ENST00000507835.5:c.308G=	ENSP00000426839.1:p.Cys103=
ENST00000508053.5:c.3758G=	ENSP00000424571.1:p.Cys1253=
ENST00000508989.5:c.3659G=	ENSP00000425596.1:p.Cys1220=
ENST00000619499.4:c.3755G=	ENSP00000482132.1:p.Cys1252=
NM_001999.3:c.3758G=	NP_001990.2:p.Cys1253=
XM_017009228.2:c.3605G=	XP_016864717.1:p.Cys1202=
NM_001999.4:c.3758G= MANE Select	NP_001990.2:p.Cys1253=