Canonical Allele Identifier: CA1581269603

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335485C= , CM000667.2:g.128335485C=	GRCh38
NC_000005.9:g.127671177C= , CM000667.1:g.127671177C=	GRCh37
NC_000005.8:g.127699076C=	NCBI36
NG_008750.1:g.207559G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.601G=
ENST00000703785.1:n.682G=
ENST00000262464.9:c.3817G= MANE Select	ENSP00000262464.4:p.Ala1273=
ENST00000262464.8:c.3817G=	ENSP00000262464.4:p.Ala1273=
ENST00000507835.5:c.367G=	ENSP00000426839.1:p.Ala123=
ENST00000508053.5:c.3817G=	ENSP00000424571.1:p.Ala1273=
ENST00000508989.5:c.3718G=	ENSP00000425596.1:p.Ala1240=
ENST00000619499.4:c.3814G=	ENSP00000482132.1:p.Ala1272=
NM_001999.3:c.3817G=	NP_001990.2:p.Ala1273=
XM_017009228.2:c.3664G=	XP_016864717.1:p.Ala1222=
NM_001999.4:c.3817G= MANE Select	NP_001990.2:p.Ala1273=