Canonical Allele Identifier: CA2768335871

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335863_128335869del , CM000667.2:g.128335863_128335869del	GRCh38
NC_000005.9:g.127671555_127671561del , CM000667.1:g.127671555_127671561del	GRCh37
NC_000005.8:g.127699454_127699460del	NCBI36
NG_008750.1:g.207176_207182del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.508+120_508+126del
ENST00000703785.1:n.589+120_589+126del
ENST00000262464.9:c.3724+120_3724+126del MANE Select	ENSP00000262464.4:n.3724+120_3724+126del
ENST00000262464.8:c.3724+120_3724+126del	ENSP00000262464.4:n.3724+120_3724+126del
ENST00000507835.5:c.274+120_274+126del	ENSP00000426839.1:n.274+120_274+126del
ENST00000508053.5:c.3724+120_3724+126del	ENSP00000424571.1:n.3724+120_3724+126del
ENST00000508989.5:c.3625+120_3625+126del	ENSP00000425596.1:n.3625+120_3625+126del
ENST00000619499.4:c.3721+120_3721+126del	ENSP00000482132.1:n.3721+120_3721+126del
NM_001999.3:c.3724+120_3724+126del	NP_001990.2:n.3724+120_3724+126del
XM_017009228.2:c.3571+120_3571+126del	XP_016864717.1:n.3571+120_3571+126del
NM_001999.4:c.3724+120_3724+126del MANE Select	NP_001990.2:n.3724+120_3724+126del