Canonical Allele Identifier: CA1581363552

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128537483G= , CM000667.2:g.128537483G=	GRCh38
NC_000005.9:g.127873176G= , CM000667.1:g.127873176G=	GRCh37
NC_000005.8:g.127901075G=	NCBI36
NG_008750.1:g.5560C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000508053.6:c.121C=	ENSP00000424571.2:p.Gln41=
ENST00000262464.9:c.121C= MANE Select	ENSP00000262464.4:p.Gln41=
ENST00000262464.8:c.121C=	ENSP00000262464.4:p.Gln41=
ENST00000502468.5:c.121C=	ENSP00000424753.1:p.Gln41=
ENST00000508053.5:c.121C=	ENSP00000424571.1:p.Gln41=
ENST00000508989.5:c.121C=	ENSP00000425596.1:p.Gln41=
ENST00000514742.1:n.741C=
ENST00000619499.4:c.121C=	ENSP00000482132.1:p.Gln41=
ENST00000620257.1:c.121C=	ENSP00000479157.1:p.Gln41=
NM_001999.3:c.121C=	NP_001990.2:p.Gln41=
XM_017009228.2:c.121C=	XP_016864717.1:p.Gln41=
NM_001999.4:c.121C= MANE Select	NP_001990.2:p.Gln41=