Canonical Allele Identifier: CA2832543970

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128393186dup , CM000667.2:g.128393186dup	GRCh38
NC_000005.9:g.127728879dup , CM000667.1:g.127728879dup	GRCh37
NC_000005.8:g.127756778dup	NCBI36
NG_008750.1:g.149861dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703787.1:n.1125dup
ENST00000262464.9:c.1418dup MANE Select	ENSP00000262464.4:p.Ala474SerfsTer26
ENST00000262464.8:c.1418dup	ENSP00000262464.4:p.Ala474SerfsTer26
ENST00000508053.5:c.1418dup	ENSP00000424571.1:p.Ala474SerfsTer26
ENST00000508989.5:c.1319dup	ENSP00000425596.1:p.Ala441SerfsTer26
ENST00000619499.4:c.1415dup	ENSP00000482132.1:p.Ala473SerfsTer26
NM_001999.3:c.1418dup	NP_001990.2:p.Ala474SerfsTer26
XM_017009228.2:c.1265dup	XP_016864717.1:p.Ala423SerfsTer26
NM_001999.4:c.1418dup MANE Select	NP_001990.2:p.Ala474SerfsTer26