Canonical Allele Identifier: CA3396001

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128464741C>A , CM000667.2:g.128464741C>A	GRCh38
NC_000005.9:g.127800434C>A , CM000667.1:g.127800434C>A	GRCh37
NC_000005.8:g.127828333C>A	NCBI36
NG_008750.1:g.78302G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.809G>T MANE Select	NP_001990.2:p.Arg270Leu
ENST00000262464.9:c.809G>T MANE Select	ENSP00000262464.4:p.Arg270Leu
NM_001999.3:c.809G>T	NP_001990.2:p.Arg270Leu
ENST00000262464.8:c.809G>T	ENSP00000262464.4:p.Arg270Leu
ENST00000502468.5:c.809G>T	ENSP00000424753.1:p.Arg270Leu
ENST00000508053.5:c.809G>T	ENSP00000424571.1:p.Arg270Leu
ENST00000508053.6:c.809G>T	ENSP00000424571.2:p.Arg270Leu
ENST00000508989.5:c.710G>T	ENSP00000425596.1:p.Arg237Leu
ENST00000514742.1:n.1429G>T
ENST00000619499.4:c.806G>T	ENSP00000482132.1:p.Arg269Leu
ENST00000620257.1:c.807G>T	ENSP00000479157.1:p.Pro269=
ENST00000703787.1:n.516G>T
XM_017009228.2:c.809G>T	XP_016864717.1:p.Arg270Leu