Canonical Allele Identifier: CA3395466

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128350963C>T , CM000667.2:g.128350963C>T	GRCh38
NC_000005.9:g.127686655C>T , CM000667.1:g.127686655C>T	GRCh37
NC_000005.8:g.127714554C>T	NCBI36
NG_008750.1:g.192081G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.2717G>A MANE Select	NP_001990.2:p.Arg906His
ENST00000262464.9:c.2717G>A MANE Select	ENSP00000262464.4:p.Arg906His
NM_001999.3:c.2717G>A	NP_001990.2:p.Arg906His
ENST00000262464.8:c.2717G>A	ENSP00000262464.4:p.Arg906His
ENST00000508053.5:c.2717G>A	ENSP00000424571.1:p.Arg906His
ENST00000508989.5:c.2618G>A	ENSP00000425596.1:p.Arg873His
ENST00000619499.4:c.2714G>A	ENSP00000482132.1:p.Arg905His
XM_017009228.2:c.2564G>A	XP_016864717.1:p.Arg855His