Canonical Allele Identifier: CA2768335957

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128337897T>A , CM000667.2:g.128337897T>A	GRCh38
NC_000005.9:g.127673589T>A , CM000667.1:g.127673589T>A	GRCh37
NC_000005.8:g.127701488T>A	NCBI36
NG_008750.1:g.205147A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.382+100A>T
ENST00000703785.1:n.463+100A>T
ENST00000262464.9:c.3598+100A>T MANE Select	ENSP00000262464.4:n.3598+100A>T
ENST00000262464.8:c.3598+100A>T	ENSP00000262464.4:n.3598+100A>T
ENST00000507835.5:c.148+100A>T	ENSP00000426839.1:n.148+100A>T
ENST00000508053.5:c.3598+100A>T	ENSP00000424571.1:n.3598+100A>T
ENST00000508989.5:c.3499+100A>T	ENSP00000425596.1:n.3499+100A>T
ENST00000619499.4:c.3595+100A>T	ENSP00000482132.1:n.3595+100A>T
NM_001999.3:c.3598+100A>T	NP_001990.2:n.3598+100A>T
XM_017009228.2:c.3445+100A>T	XP_016864717.1:n.3445+100A>T
NM_001999.4:c.3598+100A>T MANE Select	NP_001990.2:n.3598+100A>T