Canonical Allele Identifier: CA360756260

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128519362C>T , CM000667.2:g.128519362C>T	GRCh38
NC_000005.9:g.127855055C>T , CM000667.1:g.127855055C>T	GRCh37
NC_000005.8:g.127882954C>T	NCBI36
NG_008750.1:g.23681G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.539G>A MANE Select	NP_001990.2:p.Cys180Tyr
ENST00000262464.9:c.539G>A MANE Select	ENSP00000262464.4:p.Cys180Tyr
NM_001999.3:c.539G>A	NP_001990.2:p.Cys180Tyr
ENST00000262464.8:c.539G>A	ENSP00000262464.4:p.Cys180Tyr
ENST00000502468.5:c.539G>A	ENSP00000424753.1:p.Cys180Tyr
ENST00000508053.5:c.539G>A	ENSP00000424571.1:p.Cys180Tyr
ENST00000508053.6:c.539G>A	ENSP00000424571.2:p.Cys180Tyr
ENST00000508989.5:c.440G>A	ENSP00000425596.1:p.Cys147Tyr
ENST00000514742.1:n.1159G>A
ENST00000619499.4:c.539G>A	ENSP00000482132.1:p.Cys180Tyr
ENST00000620257.1:c.539G>A	ENSP00000479157.1:p.Cys180Tyr
ENST00000703787.1:n.246G>A
XM_017009228.2:c.539G>A	XP_016864717.1:p.Cys180Tyr