Canonical Allele Identifier: CA1581267383

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330679A= , CM000667.2:g.128330679A=	GRCh38
NC_000005.9:g.127666371A= , CM000667.1:g.127666371A=	GRCh37
NC_000005.8:g.127694270A=	NCBI36
NG_008750.1:g.212365T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1023T=
ENST00000703785.1:n.1104T=
ENST00000262464.9:c.4239T= MANE Select	ENSP00000262464.4:p.Ser1413=
ENST00000262464.8:c.4239T=	ENSP00000262464.4:p.Ser1413=
ENST00000507835.5:c.789T=	ENSP00000426839.1:p.Ser263=
ENST00000508053.5:c.4239T=	ENSP00000424571.1:p.Ser1413=
ENST00000508989.5:c.4140T=	ENSP00000425596.1:p.Ser1380=
ENST00000619499.4:c.4236T=	ENSP00000482132.1:p.Ser1412=
NM_001999.3:c.4239T=	NP_001990.2:p.Ser1413=
XM_017009228.2:c.4086T=	XP_016864717.1:p.Ser1362=
NM_001999.4:c.4239T= MANE Select	NP_001990.2:p.Ser1413=