Canonical Allele Identifier: CA360757920

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335469C>A , CM000667.2:g.128335469C>A	GRCh38
NC_000005.9:g.127671161C>A , CM000667.1:g.127671161C>A	GRCh37
NC_000005.8:g.127699060C>A	NCBI36
NG_008750.1:g.207575G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.3833G>T MANE Select	NP_001990.2:p.Gly1278Val
ENST00000262464.9:c.3833G>T MANE Select	ENSP00000262464.4:p.Gly1278Val
NM_001999.3:c.3833G>T	NP_001990.2:p.Gly1278Val
ENST00000262464.8:c.3833G>T	ENSP00000262464.4:p.Gly1278Val
ENST00000507835.5:c.383G>T	ENSP00000426839.1:p.Gly128Val
ENST00000508053.5:c.3833G>T	ENSP00000424571.1:p.Gly1278Val
ENST00000508989.5:c.3734G>T	ENSP00000425596.1:p.Gly1245Val
ENST00000619499.4:c.3830G>T	ENSP00000482132.1:p.Gly1277Val
ENST00000703783.1:n.617G>T
ENST00000703785.1:n.698G>T
XM_017009228.2:c.3680G>T	XP_016864717.1:p.Gly1227Val