Canonical Allele Identifier: CA2768335853

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335413_128335414insCCAAACACACCCAACACA , CM000667.2:g.128335413_128335414insCCAAACACACCCAACACA	GRCh38
NC_000005.9:g.127671105_127671106insCCAAACACACCCAACACA , CM000667.1:g.127671105_127671106insCCAAACACACCCAACACA	GRCh37
NC_000005.8:g.127699004_127699005insCCAAACACACCCAACACA	NCBI36
NG_008750.1:g.207631_207632insGTGTTGGGTGTGTTTGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.631+42_631+43insGTGTTGGGTGTGTTTGGT
ENST00000703785.1:n.712+42_712+43insGTGTTGGGTGTGTTTGGT
ENST00000262464.9:c.3847+42_3847+43insGTGTTGGGTGTGTTTGGT MANE Select	ENSP00000262464.4:n.3847+42_3847+43insGTGTTGGGTGTGTTTGGT
ENST00000262464.8:c.3847+42_3847+43insGTGTTGGGTGTGTTTGGT	ENSP00000262464.4:n.3847+42_3847+43insGTGTTGGGTGTGTTTGGT
ENST00000507835.5:c.397+42_397+43insGTGTTGGGTGTGTTTGGT	ENSP00000426839.1:n.397+42_397+43insGTGTTGGGTGTGTTTGGT
ENST00000508053.5:c.3847+42_3847+43insGTGTTGGGTGTGTTTGGT	ENSP00000424571.1:n.3847+42_3847+43insGTGTTGGGTGTGTTTGGT
ENST00000508989.5:c.3748+42_3748+43insGTGTTGGGTGTGTTTGGT	ENSP00000425596.1:n.3748+42_3748+43insGTGTTGGGTGTGTTTGGT
ENST00000619499.4:c.3844+42_3844+43insGTGTTGGGTGTGTTTGGT	ENSP00000482132.1:n.3844+42_3844+43insGTGTTGGGTGTGTTTGGT
NM_001999.3:c.3847+42_3847+43insGTGTTGGGTGTGTTTGGT	NP_001990.2:n.3847+42_3847+43insGTGTTGGGTGTGTTTGGT
XM_017009228.2:c.3694+42_3694+43insGTGTTGGGTGTGTTTGGT	XP_016864717.1:n.3694+42_3694+43insGTGTTGGGTGTGTTTGGT
NM_001999.4:c.3847+42_3847+43insGTGTTGGGTGTGTTTGGT MANE Select	NP_001990.2:n.3847+42_3847+43insGTGTTGGGTGTGTTTGGT