Canonical Allele Identifier: CA1581267355

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330626G= , CM000667.2:g.128330626G=	GRCh38
NC_000005.9:g.127666318G= , CM000667.1:g.127666318G=	GRCh37
NC_000005.8:g.127694217G=	NCBI36
NG_008750.1:g.212418C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1076C=
ENST00000703785.1:n.1157C=
ENST00000262464.9:c.4292C= MANE Select	ENSP00000262464.4:p.Ser1431=
ENST00000262464.8:c.4292C=	ENSP00000262464.4:p.Ser1431=
ENST00000507835.5:c.842C=	ENSP00000426839.1:p.Ser281=
ENST00000508053.5:c.4292C=	ENSP00000424571.1:p.Ser1431=
ENST00000508989.5:c.4193C=	ENSP00000425596.1:p.Ser1398=
ENST00000619499.4:c.4289C=	ENSP00000482132.1:p.Ser1430=
NM_001999.3:c.4292C=	NP_001990.2:p.Ser1431=
XM_017009228.2:c.4139C=	XP_016864717.1:p.Ser1380=
NM_001999.4:c.4292C= MANE Select	NP_001990.2:p.Ser1431=