Canonical Allele Identifier: CA2675117785

Gene: FBN2

Linked Data

• gnomAD v4: 5-128339127-GTGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128339131_128339133del , CM000667.2:g.128339131_128339133del	GRCh38
NC_000005.9:g.127674823_127674825del , CM000667.1:g.127674823_127674825del	GRCh37
NC_000005.8:g.127702722_127702724del	NCBI36
NG_008750.1:g.203914_203916del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.59_61del
ENST00000703785.1:n.140_142del
ENST00000262464.9:c.3344-69_3344-67del MANE Select	ENSP00000262464.4:n.3344-69_3344-67del
ENST00000262464.8:c.3344-69_3344-67del	ENSP00000262464.4:n.3344-69_3344-67del
ENST00000507835.5:c.-176_-174del	ENSP00000426839.1:n.-176_-174del
ENST00000508053.5:c.3344-69_3344-67del	ENSP00000424571.1:n.3344-69_3344-67del
ENST00000508989.5:c.3245-69_3245-67del	ENSP00000425596.1:n.3245-69_3245-67del
ENST00000619499.4:c.3341-69_3341-67del	ENSP00000482132.1:n.3341-69_3341-67del
NM_001999.3:c.3344-69_3344-67del	NP_001990.2:n.3344-69_3344-67del
XM_017009228.2:c.3191-69_3191-67del	XP_016864717.1:n.3191-69_3191-67del
NM_001999.4:c.3344-69_3344-67del MANE Select	NP_001990.2:n.3344-69_3344-67del