Canonical Allele Identifier: CA1581269658

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335621_128335622delinsTA , CM000667.2:g.128335621_128335622delinsTA	GRCh38
NC_000005.9:g.127671313_127671314delinsTA , CM000667.1:g.127671313_127671314delinsTA	GRCh37
NC_000005.8:g.127699212_127699213delinsTA	NCBI36
NG_008750.1:g.207422_207423delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.509-45_509-44delinsTA
ENST00000703785.1:n.590-45_590-44delinsTA
ENST00000262464.9:c.3725-45_3725-44delinsTA MANE Select	ENSP00000262464.4:n.3725-45_3725-44delinsTA
ENST00000262464.8:c.3725-45_3725-44delinsTA	ENSP00000262464.4:n.3725-45_3725-44delinsTA
ENST00000507835.5:c.275-45_275-44delinsTA	ENSP00000426839.1:n.275-45_275-44delinsTA
ENST00000508053.5:c.3725-45_3725-44delinsTA	ENSP00000424571.1:n.3725-45_3725-44delinsTA
ENST00000508989.5:c.3626-45_3626-44delinsTA	ENSP00000425596.1:n.3626-45_3626-44delinsTA
ENST00000619499.4:c.3722-45_3722-44delinsTA	ENSP00000482132.1:n.3722-45_3722-44delinsTA
NM_001999.3:c.3725-45_3725-44delinsTA	NP_001990.2:n.3725-45_3725-44delinsTA
XM_017009228.2:c.3572-45_3572-44delinsTA	XP_016864717.1:n.3572-45_3572-44delinsTA
NM_001999.4:c.3725-45_3725-44delinsTA MANE Select	NP_001990.2:n.3725-45_3725-44delinsTA