Canonical Allele Identifier: CA2578395894

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128300853del , CM000667.2:g.128300853del	GRCh38
NC_000005.9:g.127636545del , CM000667.1:g.127636545del	GRCh37
NC_000005.8:g.127664444del	NCBI36
NG_008750.1:g.242195del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2918del
ENST00000703785.1:n.2837del
ENST00000262464.9:c.6134del MANE Select	ENSP00000262464.4:p.Pro2045GlnfsTer5
ENST00000262464.8:c.6134del	ENSP00000262464.4:p.Pro2045GlnfsTer5
ENST00000508053.5:c.6134del	ENSP00000424571.1:p.Pro2045GlnfsTer5
ENST00000619499.4:c.6131del	ENSP00000482132.1:p.Pro2044GlnfsTer5
NM_001999.3:c.6134del	NP_001990.2:p.Pro2045GlnfsTer5
XM_017009228.2:c.5981del	XP_016864717.1:p.Pro1994GlnfsTer5
NM_001999.4:c.6134del MANE Select	NP_001990.2:p.Pro2045GlnfsTer5