Canonical Allele Identifier: CA2578396672

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128393065del , CM000667.2:g.128393065del	GRCh38
NC_000005.9:g.127728758del , CM000667.1:g.127728758del	GRCh37
NC_000005.8:g.127756657del	NCBI36
NG_008750.1:g.149981del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703787.1:n.1172+73del
ENST00000262464.9:c.1465+73del MANE Select	ENSP00000262464.4:n.1465+73del
ENST00000262464.8:c.1465+73del	ENSP00000262464.4:n.1465+73del
ENST00000508053.5:c.1465+73del	ENSP00000424571.1:n.1465+73del
ENST00000508989.5:c.1366+73del	ENSP00000425596.1:n.1366+73del
ENST00000619499.4:c.1462+73del	ENSP00000482132.1:n.1462+73del
NM_001999.3:c.1465+73del	NP_001990.2:n.1465+73del
XM_017009228.2:c.1312+73del	XP_016864717.1:n.1312+73del
NM_001999.4:c.1465+73del MANE Select	NP_001990.2:n.1465+73del