Canonical Allele Identifier: CA1581271233

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128339077T= , CM000667.2:g.128339077T=	GRCh38
NC_000005.9:g.127674769T= , CM000667.1:g.127674769T=	GRCh37
NC_000005.8:g.127702668T=	NCBI36
NG_008750.1:g.203967A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.112A=
ENST00000703785.1:n.193A=
ENST00000262464.9:c.3344-16A= MANE Select	ENSP00000262464.4:n.3344-16A=
ENST00000262464.8:c.3344-16A=	ENSP00000262464.4:n.3344-16A=
ENST00000507835.5:c.-123A=	ENSP00000426839.1:n.-123A=
ENST00000508053.5:c.3344-16A=	ENSP00000424571.1:n.3344-16A=
ENST00000508989.5:c.3245-16A=	ENSP00000425596.1:n.3245-16A=
ENST00000619499.4:c.3341-16A=	ENSP00000482132.1:n.3341-16A=
NM_001999.3:c.3344-16A=	NP_001990.2:n.3344-16A=
XM_017009228.2:c.3191-16A=	XP_016864717.1:n.3191-16A=
NM_001999.4:c.3344-16A= MANE Select	NP_001990.2:n.3344-16A=