Canonical Allele Identifier: CA1581269683

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335680C= , CM000667.2:g.128335680C=	GRCh38
NC_000005.9:g.127671372C= , CM000667.1:g.127671372C=	GRCh37
NC_000005.8:g.127699271C=	NCBI36
NG_008750.1:g.207364G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.509-103G=
ENST00000703785.1:n.590-103G=
ENST00000262464.9:c.3725-103G= MANE Select	ENSP00000262464.4:n.3725-103G=
ENST00000262464.8:c.3725-103G=	ENSP00000262464.4:n.3725-103G=
ENST00000507835.5:c.275-103G=	ENSP00000426839.1:n.275-103G=
ENST00000508053.5:c.3725-103G=	ENSP00000424571.1:n.3725-103G=
ENST00000508989.5:c.3626-103G=	ENSP00000425596.1:n.3626-103G=
ENST00000619499.4:c.3722-103G=	ENSP00000482132.1:n.3722-103G=
NM_001999.3:c.3725-103G=	NP_001990.2:n.3725-103G=
XM_017009228.2:c.3572-103G=	XP_016864717.1:n.3572-103G=
NM_001999.4:c.3725-103G= MANE Select	NP_001990.2:n.3725-103G=