Canonical Allele Identifier: CA3396023

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128464846G>A , CM000667.2:g.128464846G>A	GRCh38
NC_000005.9:g.127800539G>A , CM000667.1:g.127800539G>A	GRCh37
NC_000005.8:g.127828438G>A	NCBI36
NG_008750.1:g.78197C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.704C>T MANE Select	NP_001990.2:p.Thr235Met
ENST00000262464.9:c.704C>T MANE Select	ENSP00000262464.4:p.Thr235Met
NM_001999.3:c.704C>T	NP_001990.2:p.Thr235Met
ENST00000262464.8:c.704C>T	ENSP00000262464.4:p.Thr235Met
ENST00000502468.5:c.704C>T	ENSP00000424753.1:p.Thr235Met
ENST00000508053.5:c.704C>T	ENSP00000424571.1:p.Thr235Met
ENST00000508053.6:c.704C>T	ENSP00000424571.2:p.Thr235Met
ENST00000508989.5:c.605C>T	ENSP00000425596.1:p.Thr202Met
ENST00000514742.1:n.1324C>T
ENST00000619499.4:c.701C>T	ENSP00000482132.1:p.Thr234Met
ENST00000620257.1:c.704C>T	ENSP00000479157.1:p.Thr235Met
ENST00000703787.1:n.411C>T
XM_017009228.2:c.704C>T	XP_016864717.1:p.Thr235Met