Canonical Allele Identifier: CA1581268413

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128333010G= , CM000667.2:g.128333010G=	GRCh38
NC_000005.9:g.127668702G= , CM000667.1:g.127668702G=	GRCh37
NC_000005.8:g.127696601G=	NCBI36
NG_008750.1:g.210034C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.908C=
ENST00000703785.1:n.989C=
ENST00000262464.9:c.4124C= MANE Select	ENSP00000262464.4:p.Ala1375=
ENST00000262464.8:c.4124C=	ENSP00000262464.4:p.Ala1375=
ENST00000507835.5:c.674C=	ENSP00000426839.1:p.Ala225=
ENST00000508053.5:c.4124C=	ENSP00000424571.1:p.Ala1375=
ENST00000508989.5:c.4025C=	ENSP00000425596.1:p.Ala1342=
ENST00000619499.4:c.4121C=	ENSP00000482132.1:p.Ala1374=
NM_001999.3:c.4124C=	NP_001990.2:p.Ala1375=
XM_017009228.2:c.3971C=	XP_016864717.1:p.Ala1324=
NM_001999.4:c.4124C= MANE Select	NP_001990.2:p.Ala1375=