Canonical Allele Identifier: CA1581267365

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330645A= , CM000667.2:g.128330645A=	GRCh38
NC_000005.9:g.127666337A= , CM000667.1:g.127666337A=	GRCh37
NC_000005.8:g.127694236A=	NCBI36
NG_008750.1:g.212399T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1057T=
ENST00000703785.1:n.1138T=
ENST00000262464.9:c.4273T= MANE Select	ENSP00000262464.4:p.Cys1425=
ENST00000262464.8:c.4273T=	ENSP00000262464.4:p.Cys1425=
ENST00000507835.5:c.823T=	ENSP00000426839.1:p.Cys275=
ENST00000508053.5:c.4273T=	ENSP00000424571.1:p.Cys1425=
ENST00000508989.5:c.4174T=	ENSP00000425596.1:p.Cys1392=
ENST00000619499.4:c.4270T=	ENSP00000482132.1:p.Cys1424=
NM_001999.3:c.4273T=	NP_001990.2:p.Cys1425=
XM_017009228.2:c.4120T=	XP_016864717.1:p.Cys1374=
NM_001999.4:c.4273T= MANE Select	NP_001990.2:p.Cys1425=