Canonical Allele Identifier: CA1581267335

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330575G= , CM000667.2:g.128330575G=	GRCh38
NC_000005.9:g.127666267G= , CM000667.1:g.127666267G=	GRCh37
NC_000005.8:g.127694166G=	NCBI36
NG_008750.1:g.212469C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1127C=
ENST00000703785.1:n.1208C=
ENST00000262464.9:c.4343C= MANE Select	ENSP00000262464.4:p.Ser1448=
ENST00000262464.8:c.4343C=	ENSP00000262464.4:p.Ser1448=
ENST00000507835.5:c.893C=	ENSP00000426839.1:p.Ser298=
ENST00000508053.5:c.4343C=	ENSP00000424571.1:p.Ser1448=
ENST00000508989.5:c.4244C=	ENSP00000425596.1:p.Ser1415=
ENST00000619499.4:c.4340C=	ENSP00000482132.1:p.Ser1447=
NM_001999.3:c.4343C=	NP_001990.2:p.Ser1448=
XM_017009228.2:c.4190C=	XP_016864717.1:p.Ser1397=
NM_001999.4:c.4343C= MANE Select	NP_001990.2:p.Ser1448=