Canonical Allele Identifier: CA360757917

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335466C>T , CM000667.2:g.128335466C>T	GRCh38
NC_000005.9:g.127671158C>T , CM000667.1:g.127671158C>T	GRCh37
NC_000005.8:g.127699057C>T	NCBI36
NG_008750.1:g.207578G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.3836G>A MANE Select	NP_001990.2:p.Arg1279Lys
ENST00000262464.9:c.3836G>A MANE Select	ENSP00000262464.4:p.Arg1279Lys
NM_001999.3:c.3836G>A	NP_001990.2:p.Arg1279Lys
ENST00000262464.8:c.3836G>A	ENSP00000262464.4:p.Arg1279Lys
ENST00000507835.5:c.386G>A	ENSP00000426839.1:p.Arg129Lys
ENST00000508053.5:c.3836G>A	ENSP00000424571.1:p.Arg1279Lys
ENST00000508989.5:c.3737G>A	ENSP00000425596.1:p.Arg1246Lys
ENST00000619499.4:c.3833G>A	ENSP00000482132.1:p.Arg1278Lys
ENST00000703783.1:n.620G>A
ENST00000703785.1:n.701G>A
XM_017009228.2:c.3683G>A	XP_016864717.1:p.Arg1228Lys