Canonical Allele Identifier: CA1581271182

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338975C= , CM000667.2:g.128338975C=	GRCh38
NC_000005.9:g.127674667C= , CM000667.1:g.127674667C=	GRCh37
NC_000005.8:g.127702566C=	NCBI36
NG_008750.1:g.204069G=

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.3430G= MANE Select	NP_001990.2:p.Glu1144=
ENST00000262464.9:c.3430G= MANE Select	ENSP00000262464.4:p.Glu1144=
NM_001999.3:c.3430G=	NP_001990.2:p.Glu1144=
ENST00000262464.8:c.3430G=	ENSP00000262464.4:p.Glu1144=
ENST00000507835.5:c.-21G=	ENSP00000426839.1:n.-21G=
ENST00000508053.5:c.3430G=	ENSP00000424571.1:p.Glu1144=
ENST00000508989.5:c.3331G=	ENSP00000425596.1:p.Glu1111=
ENST00000619499.4:c.3427G=	ENSP00000482132.1:p.Glu1143=
ENST00000703783.1:n.214G=
ENST00000703785.1:n.295G=
XM_017009228.2:c.3277G=	XP_016864717.1:p.Glu1093=