Canonical Allele Identifier: CA2675117886

Gene: FBN2

Linked Data

• gnomAD v4: 5-128339191-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128339194del , CM000667.2:g.128339194del	GRCh38
NC_000005.9:g.127674886del , CM000667.1:g.127674886del	GRCh37
NC_000005.8:g.127702785del	NCBI36
NG_008750.1:g.203852del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703785.1:n.78del
ENST00000262464.9:c.3344-131del MANE Select	ENSP00000262464.4:n.3344-131del
ENST00000262464.8:c.3344-131del	ENSP00000262464.4:n.3344-131del
ENST00000508053.5:c.3344-131del	ENSP00000424571.1:n.3344-131del
ENST00000508989.5:c.3245-131del	ENSP00000425596.1:n.3245-131del
ENST00000619499.4:c.3341-131del	ENSP00000482132.1:n.3341-131del
NM_001999.3:c.3344-131del	NP_001990.2:n.3344-131del
XM_017009228.2:c.3191-131del	XP_016864717.1:n.3191-131del
NM_001999.4:c.3344-131del MANE Select	NP_001990.2:n.3344-131del