Canonical Allele Identifier: CA1581269842

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128336042G= , CM000667.2:g.128336042G=	GRCh38
NC_000005.9:g.127671734G= , CM000667.1:g.127671734G=	GRCh37
NC_000005.8:g.127699633G=	NCBI36
NG_008750.1:g.207002C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.3670C= MANE Select	NP_001990.2:p.Gln1224=
ENST00000262464.9:c.3670C= MANE Select	ENSP00000262464.4:p.Gln1224=
NM_001999.3:c.3670C=	NP_001990.2:p.Gln1224=
ENST00000262464.8:c.3670C=	ENSP00000262464.4:p.Gln1224=
ENST00000507835.5:c.220C=	ENSP00000426839.1:p.Gln74=
ENST00000508053.5:c.3670C=	ENSP00000424571.1:p.Gln1224=
ENST00000508989.5:c.3571C=	ENSP00000425596.1:p.Gln1191=
ENST00000619499.4:c.3667C=	ENSP00000482132.1:p.Gln1223=
ENST00000703783.1:n.454C=
ENST00000703785.1:n.535C=
XM_017009228.2:c.3517C=	XP_016864717.1:p.Gln1173=