Canonical Allele Identifier: CA174026

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338975C>T , CM000667.2:g.128338975C>T	GRCh38
NC_000005.9:g.127674667C>T , CM000667.1:g.127674667C>T	GRCh37
NC_000005.8:g.127702566C>T	NCBI36
NG_008750.1:g.204069G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.214G>A
ENST00000703785.1:n.295G>A
ENST00000262464.9:c.3430G>A MANE Select	ENSP00000262464.4:p.Glu1144Lys
ENST00000262464.8:c.3430G>A	ENSP00000262464.4:p.Glu1144Lys
ENST00000507835.5:c.-21G>A	ENSP00000426839.1:n.-21G>A
ENST00000508053.5:c.3430G>A	ENSP00000424571.1:p.Glu1144Lys
ENST00000508989.5:c.3331G>A	ENSP00000425596.1:p.Glu1111Lys
ENST00000619499.4:c.3427G>A	ENSP00000482132.1:p.Glu1143Lys
NM_001999.3:c.3430G>A	NP_001990.2:p.Glu1144Lys
XM_017009228.2:c.3277G>A	XP_016864717.1:p.Glu1093Lys
NM_001999.4:c.3430G>A MANE Select	NP_001990.2:p.Glu1144Lys