Canonical Allele Identifier: CA1581267376

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330667G= , CM000667.2:g.128330667G=	GRCh38
NC_000005.9:g.127666359G= , CM000667.1:g.127666359G=	GRCh37
NC_000005.8:g.127694258G=	NCBI36
NG_008750.1:g.212377C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1035C=
ENST00000703785.1:n.1116C=
ENST00000262464.9:c.4251C= MANE Select	ENSP00000262464.4:p.His1417=
ENST00000262464.8:c.4251C=	ENSP00000262464.4:p.His1417=
ENST00000507835.5:c.801C=	ENSP00000426839.1:p.His267=
ENST00000508053.5:c.4251C=	ENSP00000424571.1:p.His1417=
ENST00000508989.5:c.4152C=	ENSP00000425596.1:p.His1384=
ENST00000619499.4:c.4248C=	ENSP00000482132.1:p.His1416=
NM_001999.3:c.4251C=	NP_001990.2:p.His1417=
XM_017009228.2:c.4098C=	XP_016864717.1:p.His1366=
NM_001999.4:c.4251C= MANE Select	NP_001990.2:p.His1417=