Canonical Allele Identifier: CA1581269630

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335552G= , CM000667.2:g.128335552G=	GRCh38
NC_000005.9:g.127671244G= , CM000667.1:g.127671244G=	GRCh37
NC_000005.8:g.127699143G=	NCBI36
NG_008750.1:g.207492C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.534C=
ENST00000703785.1:n.615C=
ENST00000262464.9:c.3750C= MANE Select	ENSP00000262464.4:p.Asn1250=
ENST00000262464.8:c.3750C=	ENSP00000262464.4:p.Asn1250=
ENST00000507835.5:c.300C=	ENSP00000426839.1:p.Asn100=
ENST00000508053.5:c.3750C=	ENSP00000424571.1:p.Asn1250=
ENST00000508989.5:c.3651C=	ENSP00000425596.1:p.Asn1217=
ENST00000619499.4:c.3747C=	ENSP00000482132.1:p.Asn1249=
NM_001999.3:c.3750C=	NP_001990.2:p.Asn1250=
XM_017009228.2:c.3597C=	XP_016864717.1:p.Asn1199=
NM_001999.4:c.3750C= MANE Select	NP_001990.2:p.Asn1250=