Canonical Allele Identifier: CA1581267381

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330672T= , CM000667.2:g.128330672T=	GRCh38
NC_000005.9:g.127666364T= , CM000667.1:g.127666364T=	GRCh37
NC_000005.8:g.127694263T=	NCBI36
NG_008750.1:g.212372A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1030A=
ENST00000703785.1:n.1111A=
ENST00000262464.9:c.4246A= MANE Select	ENSP00000262464.4:p.Thr1416=
ENST00000262464.8:c.4246A=	ENSP00000262464.4:p.Thr1416=
ENST00000507835.5:c.796A=	ENSP00000426839.1:p.Thr266=
ENST00000508053.5:c.4246A=	ENSP00000424571.1:p.Thr1416=
ENST00000508989.5:c.4147A=	ENSP00000425596.1:p.Thr1383=
ENST00000619499.4:c.4243A=	ENSP00000482132.1:p.Thr1415=
NM_001999.3:c.4246A=	NP_001990.2:p.Thr1416=
XM_017009228.2:c.4093A=	XP_016864717.1:p.Thr1365=
NM_001999.4:c.4246A= MANE Select	NP_001990.2:p.Thr1416=