Canonical Allele Identifier: CA2675117124

Gene: FBN2

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335437_128335443del , CM000667.2:g.128335437_128335443del	GRCh38
NC_000005.9:g.127671129_127671135del , CM000667.1:g.127671129_127671135del	GRCh37
NC_000005.8:g.127699028_127699034del	NCBI36
NG_008750.1:g.207602_207608del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.631+13_631+19del
ENST00000703785.1:n.712+13_712+19del
ENST00000262464.9:c.3847+13_3847+19del MANE Select	ENSP00000262464.4:n.3847+13_3847+19del
ENST00000262464.8:c.3847+13_3847+19del	ENSP00000262464.4:n.3847+13_3847+19del
ENST00000507835.5:c.397+13_397+19del	ENSP00000426839.1:n.397+13_397+19del
ENST00000508053.5:c.3847+13_3847+19del	ENSP00000424571.1:n.3847+13_3847+19del
ENST00000508989.5:c.3748+13_3748+19del	ENSP00000425596.1:n.3748+13_3748+19del
ENST00000619499.4:c.3844+13_3844+19del	ENSP00000482132.1:n.3844+13_3844+19del
NM_001999.3:c.3847+13_3847+19del	NP_001990.2:n.3847+13_3847+19del
XM_017009228.2:c.3694+13_3694+19del	XP_016864717.1:n.3694+13_3694+19del
NM_001999.4:c.3847+13_3847+19del MANE Select	NP_001990.2:n.3847+13_3847+19del