Canonical Allele Identifier: CA2675114032

Gene: FBN2

Linked Data

• gnomAD v4: 5-128300689-GCAGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128300690_128300693del , CM000667.2:g.128300690_128300693del	GRCh38
NC_000005.9:g.127636382_127636385del , CM000667.1:g.127636382_127636385del	GRCh37
NC_000005.8:g.127664281_127664284del	NCBI36
NG_008750.1:g.242351_242354del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2950+124_2950+127del
ENST00000703785.1:n.2869+124_2869+127del
ENST00000262464.9:c.6166+124_6166+127del MANE Select	ENSP00000262464.4:n.6166+124_6166+127del
ENST00000262464.8:c.6166+124_6166+127del	ENSP00000262464.4:n.6166+124_6166+127del
ENST00000508053.5:c.6166+124_6166+127del	ENSP00000424571.1:n.6166+124_6166+127del
ENST00000619499.4:c.6163+124_6163+127del	ENSP00000482132.1:n.6163+124_6163+127del
NM_001999.3:c.6166+124_6166+127del	NP_001990.2:n.6166+124_6166+127del
XM_017009228.2:c.6013+124_6013+127del	XP_016864717.1:n.6013+124_6013+127del
NM_001999.4:c.6166+124_6166+127del MANE Select	NP_001990.2:n.6166+124_6166+127del