Canonical Allele Identifier: CA323681

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128392078A>T , CM000667.2:g.128392078A>T	GRCh38
NC_000005.9:g.127727771A>T , CM000667.1:g.127727771A>T	GRCh37
NC_000005.8:g.127755670A>T	NCBI36
NG_008750.1:g.150965T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.1543T>A MANE Select	NP_001990.2:p.Ser515Thr
ENST00000262464.9:c.1543T>A MANE Select	ENSP00000262464.4:p.Ser515Thr
NM_001999.3:c.1543T>A	NP_001990.2:p.Ser515Thr
ENST00000262464.8:c.1543T>A	ENSP00000262464.4:p.Ser515Thr
ENST00000508053.5:c.1543T>A	ENSP00000424571.1:p.Ser515Thr
ENST00000508989.5:c.1444T>A	ENSP00000425596.1:p.Ser482Thr
ENST00000619499.4:c.1540T>A	ENSP00000482132.1:p.Ser514Thr
ENST00000703787.1:n.1250T>A
XM_017009228.2:c.1390T>A	XP_016864717.1:p.Ser464Thr