Canonical Allele Identifier: CA2528540545

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335378_128335380del , CM000667.2:g.128335378_128335380del	GRCh38
NC_000005.9:g.127671070_127671072del , CM000667.1:g.127671070_127671072del	GRCh37
NC_000005.8:g.127698969_127698971del	NCBI36
NG_008750.1:g.207664_207666del

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.631+75_631+77del
ENST00000703785.1:n.712+75_712+77del
ENST00000262464.9:c.3847+75_3847+77del MANE Select	ENSP00000262464.4:n.3847+75_3847+77del
ENST00000262464.8:c.3847+75_3847+77del	ENSP00000262464.4:n.3847+75_3847+77del
ENST00000507835.5:c.397+75_397+77del	ENSP00000426839.1:n.397+75_397+77del
ENST00000508053.5:c.3847+75_3847+77del	ENSP00000424571.1:n.3847+75_3847+77del
ENST00000508989.5:c.3748+75_3748+77del	ENSP00000425596.1:n.3748+75_3748+77del
ENST00000619499.4:c.3844+75_3844+77del	ENSP00000482132.1:n.3844+75_3844+77del
NM_001999.3:c.3847+75_3847+77del	NP_001990.2:n.3847+75_3847+77del
XM_017009228.2:c.3694+75_3694+77del	XP_016864717.1:n.3694+75_3694+77del
NM_001999.4:c.3847+75_3847+77del MANE Select	NP_001990.2:n.3847+75_3847+77del