Canonical Allele Identifier: CA1581270681

Gene: FBN2

Linked Data

• dbSNP Id: rs1750889274

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128337925del , CM000667.2:g.128337925del	GRCh38
NC_000005.9:g.127673617del , CM000667.1:g.127673617del	GRCh37
NC_000005.8:g.127701516del	NCBI36
NG_008750.1:g.205120del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.382+73del
ENST00000703785.1:n.463+73del
ENST00000262464.9:c.3598+73del MANE Select	ENSP00000262464.4:n.3598+73del
ENST00000262464.8:c.3598+73del	ENSP00000262464.4:n.3598+73del
ENST00000507835.5:c.148+73del	ENSP00000426839.1:n.148+73del
ENST00000508053.5:c.3598+73del	ENSP00000424571.1:n.3598+73del
ENST00000508989.5:c.3499+73del	ENSP00000425596.1:n.3499+73del
ENST00000619499.4:c.3595+73del	ENSP00000482132.1:n.3595+73del
NM_001999.3:c.3598+73del	NP_001990.2:n.3598+73del
XM_017009228.2:c.3445+73del	XP_016864717.1:n.3445+73del
NM_001999.4:c.3598+73del MANE Select	NP_001990.2:n.3598+73del