Canonical Allele Identifier: CA1581268412

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128333008G= , CM000667.2:g.128333008G=	GRCh38
NC_000005.9:g.127668700G= , CM000667.1:g.127668700G=	GRCh37
NC_000005.8:g.127696599G=	NCBI36
NG_008750.1:g.210036C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.910C=
ENST00000703785.1:n.991C=
ENST00000262464.9:c.4126C= MANE Select	ENSP00000262464.4:p.His1376=
ENST00000262464.8:c.4126C=	ENSP00000262464.4:p.His1376=
ENST00000507835.5:c.676C=	ENSP00000426839.1:p.His226=
ENST00000508053.5:c.4126C=	ENSP00000424571.1:p.His1376=
ENST00000508989.5:c.4027C=	ENSP00000425596.1:p.His1343=
ENST00000619499.4:c.4123C=	ENSP00000482132.1:p.His1375=
NM_001999.3:c.4126C=	NP_001990.2:p.His1376=
XM_017009228.2:c.3973C=	XP_016864717.1:p.His1325=
NM_001999.4:c.4126C= MANE Select	NP_001990.2:p.His1376=