Canonical Allele Identifier: CA360754990

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127668661C>T (hg19) ; chr5:g.128332969C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332969C>T , CM000667.2:g.128332969C>T	GRCh38
NC_000005.9:g.127668661C>T , CM000667.1:g.127668661C>T	GRCh37
NC_000005.8:g.127696560C>T	NCBI36
NG_008750.1:g.210075G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.949G>A
ENST00000703785.1:n.1030G>A
ENST00000262464.9:c.4165G>A MANE Select	ENSP00000262464.4:p.Gly1389Arg
ENST00000262464.8:c.4165G>A	ENSP00000262464.4:p.Gly1389Arg
ENST00000507835.5:c.715G>A	ENSP00000426839.1:p.Gly239Arg
ENST00000508053.5:c.4165G>A	ENSP00000424571.1:p.Gly1389Arg
ENST00000508989.5:c.4066G>A	ENSP00000425596.1:p.Gly1356Arg
ENST00000619499.4:c.4162G>A	ENSP00000482132.1:p.Gly1388Arg
NM_001999.3:c.4165G>A	NP_001990.2:p.Gly1389Arg
XM_017009228.2:c.4012G>A	XP_016864717.1:p.Gly1338Arg
NM_001999.4:c.4165G>A MANE Select	NP_001990.2:p.Gly1389Arg