Canonical Allele Identifier: CA360758290

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128336042G>C , CM000667.2:g.128336042G>C	GRCh38
NC_000005.9:g.127671734G>C , CM000667.1:g.127671734G>C	GRCh37
NC_000005.8:g.127699633G>C	NCBI36
NG_008750.1:g.207002C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.3670C>G MANE Select	NP_001990.2:p.Gln1224Glu
ENST00000262464.9:c.3670C>G MANE Select	ENSP00000262464.4:p.Gln1224Glu
NM_001999.3:c.3670C>G	NP_001990.2:p.Gln1224Glu
ENST00000262464.8:c.3670C>G	ENSP00000262464.4:p.Gln1224Glu
ENST00000507835.5:c.220C>G	ENSP00000426839.1:p.Gln74Glu
ENST00000508053.5:c.3670C>G	ENSP00000424571.1:p.Gln1224Glu
ENST00000508989.5:c.3571C>G	ENSP00000425596.1:p.Gln1191Glu
ENST00000619499.4:c.3667C>G	ENSP00000482132.1:p.Gln1223Glu
ENST00000703783.1:n.454C>G
ENST00000703785.1:n.535C>G
XM_017009228.2:c.3517C>G	XP_016864717.1:p.Gln1173Glu