Canonical Allele Identifier: CA1581271230

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128339073G= , CM000667.2:g.128339073G=	GRCh38
NC_000005.9:g.127674765G= , CM000667.1:g.127674765G=	GRCh37
NC_000005.8:g.127702664G=	NCBI36
NG_008750.1:g.203971C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.116C=
ENST00000703785.1:n.197C=
ENST00000262464.9:c.3344-12C= MANE Select	ENSP00000262464.4:n.3344-12C=
ENST00000262464.8:c.3344-12C=	ENSP00000262464.4:n.3344-12C=
ENST00000507835.5:c.-119C=	ENSP00000426839.1:n.-119C=
ENST00000508053.5:c.3344-12C=	ENSP00000424571.1:n.3344-12C=
ENST00000508989.5:c.3245-12C=	ENSP00000425596.1:n.3245-12C=
ENST00000619499.4:c.3341-12C=	ENSP00000482132.1:n.3341-12C=
NM_001999.3:c.3344-12C=	NP_001990.2:n.3344-12C=
XM_017009228.2:c.3191-12C=	XP_016864717.1:n.3191-12C=
NM_001999.4:c.3344-12C= MANE Select	NP_001990.2:n.3344-12C=