Canonical Allele Identifier: CA2568632814

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128337983G>T , CM000667.2:g.128337983G>T	GRCh38
NC_000005.9:g.127673675G>T , CM000667.1:g.127673675G>T	GRCh37
NC_000005.8:g.127701574G>T	NCBI36
NG_008750.1:g.205061C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.382+14C>A
ENST00000703785.1:n.463+14C>A
ENST00000262464.9:c.3598+14C>A MANE Select	ENSP00000262464.4:n.3598+14C>A
ENST00000262464.8:c.3598+14C>A	ENSP00000262464.4:n.3598+14C>A
ENST00000507835.5:c.148+14C>A	ENSP00000426839.1:n.148+14C>A
ENST00000508053.5:c.3598+14C>A	ENSP00000424571.1:n.3598+14C>A
ENST00000508989.5:c.3499+14C>A	ENSP00000425596.1:n.3499+14C>A
ENST00000619499.4:c.3595+14C>A	ENSP00000482132.1:n.3595+14C>A
NM_001999.3:c.3598+14C>A	NP_001990.2:n.3598+14C>A
XM_017009228.2:c.3445+14C>A	XP_016864717.1:n.3445+14C>A
NM_001999.4:c.3598+14C>A MANE Select	NP_001990.2:n.3598+14C>A