Canonical Allele Identifier: CA1581255396

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128305001C= , CM000667.2:g.128305001C=	GRCh38
NC_000005.9:g.127640693C= , CM000667.1:g.127640693C=	GRCh37
NC_000005.8:g.127668592C=	NCBI36
NG_008750.1:g.238043G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.2540G=
ENST00000703785.1:n.2459G=
ENST00000262464.9:c.5756G= MANE Select	ENSP00000262464.4:p.Cys1919=
ENST00000262464.8:c.5756G=	ENSP00000262464.4:p.Cys1919=
ENST00000508053.5:c.5756G=	ENSP00000424571.1:p.Cys1919=
ENST00000619499.4:c.5753G=	ENSP00000482132.1:p.Cys1918=
NM_001999.3:c.5756G=	NP_001990.2:p.Cys1919=
XM_017009228.2:c.5603G=	XP_016864717.1:p.Cys1868=
NM_001999.4:c.5756G= MANE Select	NP_001990.2:p.Cys1919=