Canonical Allele Identifier: CA1581267357

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330629C= , CM000667.2:g.128330629C=	GRCh38
NC_000005.9:g.127666321C= , CM000667.1:g.127666321C=	GRCh37
NC_000005.8:g.127694220C=	NCBI36
NG_008750.1:g.212415G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1073G=
ENST00000703785.1:n.1154G=
ENST00000262464.9:c.4289G= MANE Select	ENSP00000262464.4:p.Gly1430=
ENST00000262464.8:c.4289G=	ENSP00000262464.4:p.Gly1430=
ENST00000507835.5:c.839G=	ENSP00000426839.1:p.Gly280=
ENST00000508053.5:c.4289G=	ENSP00000424571.1:p.Gly1430=
ENST00000508989.5:c.4190G=	ENSP00000425596.1:p.Gly1397=
ENST00000619499.4:c.4286G=	ENSP00000482132.1:p.Gly1429=
NM_001999.3:c.4289G=	NP_001990.2:p.Gly1430=
XM_017009228.2:c.4136G=	XP_016864717.1:p.Gly1379=
NM_001999.4:c.4289G= MANE Select	NP_001990.2:p.Gly1430=