Canonical Allele Identifier: CA1581267346

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330609A= , CM000667.2:g.128330609A=	GRCh38
NC_000005.9:g.127666301A= , CM000667.1:g.127666301A=	GRCh37
NC_000005.8:g.127694200A=	NCBI36
NG_008750.1:g.212435T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1093T=
ENST00000703785.1:n.1174T=
ENST00000262464.9:c.4309T= MANE Select	ENSP00000262464.4:p.Ser1437=
ENST00000262464.8:c.4309T=	ENSP00000262464.4:p.Ser1437=
ENST00000507835.5:c.859T=	ENSP00000426839.1:p.Ser287=
ENST00000508053.5:c.4309T=	ENSP00000424571.1:p.Ser1437=
ENST00000508989.5:c.4210T=	ENSP00000425596.1:p.Ser1404=
ENST00000619499.4:c.4306T=	ENSP00000482132.1:p.Ser1436=
NM_001999.3:c.4309T=	NP_001990.2:p.Ser1437=
XM_017009228.2:c.4156T=	XP_016864717.1:p.Ser1386=
NM_001999.4:c.4309T= MANE Select	NP_001990.2:p.Ser1437=