Canonical Allele Identifier: CA1581269595

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335462C= , CM000667.2:g.128335462C=	GRCh38
NC_000005.9:g.127671154C= , CM000667.1:g.127671154C=	GRCh37
NC_000005.8:g.127699053C=	NCBI36
NG_008750.1:g.207582G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.624G=
ENST00000703785.1:n.705G=
ENST00000262464.9:c.3840G= MANE Select	ENSP00000262464.4:p.Ser1280=
ENST00000262464.8:c.3840G=	ENSP00000262464.4:p.Ser1280=
ENST00000507835.5:c.390G=	ENSP00000426839.1:p.Ser130=
ENST00000508053.5:c.3840G=	ENSP00000424571.1:p.Ser1280=
ENST00000508989.5:c.3741G=	ENSP00000425596.1:p.Ser1247=
ENST00000619499.4:c.3837G=	ENSP00000482132.1:p.Ser1279=
NM_001999.3:c.3840G=	NP_001990.2:p.Ser1280=
XM_017009228.2:c.3687G=	XP_016864717.1:p.Ser1229=
NM_001999.4:c.3840G= MANE Select	NP_001990.2:p.Ser1280=