Canonical Allele Identifier: CA1081363936

Gene: FBN2

Linked Data

• gnomAD v3: 5-128333269-AAG-A
• gnomAD v4: 5-128333269-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128333279_128333280del , CM000667.2:g.128333279_128333280del	GRCh38
NC_000005.9:g.127668971_127668972del , CM000667.1:g.127668971_127668972del	GRCh37
NC_000005.8:g.127696870_127696871del	NCBI36
NG_008750.1:g.209773_209774del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.884-237_884-236del
ENST00000703785.1:n.965-237_965-236del
ENST00000262464.9:c.4100-237_4100-236del MANE Select	ENSP00000262464.4:n.4100-237_4100-236del
ENST00000262464.8:c.4100-237_4100-236del	ENSP00000262464.4:n.4100-237_4100-236del
ENST00000507835.5:c.650-237_650-236del	ENSP00000426839.1:n.650-237_650-236del
ENST00000508053.5:c.4100-237_4100-236del	ENSP00000424571.1:n.4100-237_4100-236del
ENST00000508989.5:c.4001-237_4001-236del	ENSP00000425596.1:n.4001-237_4001-236del
ENST00000619499.4:c.4097-237_4097-236del	ENSP00000482132.1:n.4097-237_4097-236del
NM_001999.3:c.4100-237_4100-236del	NP_001990.2:n.4100-237_4100-236del
XM_017009228.2:c.3947-237_3947-236del	XP_016864717.1:n.3947-237_3947-236del
NM_001999.4:c.4100-237_4100-236del MANE Select	NP_001990.2:n.4100-237_4100-236del