Canonical Allele Identifier: CA650271252

Gene: FBN2

Linked Data

• gnomAD v4: 5-128330754-G-T
• COSMIC: COSN18171754

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330754G>T , CM000667.2:g.128330754G>T	GRCh38
NC_000005.9:g.127666446G>T , CM000667.1:g.127666446G>T	GRCh37
NC_000005.8:g.127694345G>T	NCBI36
NG_008750.1:g.212290C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1007-59C>A
ENST00000703785.1:n.1088-59C>A
ENST00000262464.9:c.4223-59C>A MANE Select	ENSP00000262464.4:n.4223-59C>A
ENST00000262464.8:c.4223-59C>A	ENSP00000262464.4:n.4223-59C>A
ENST00000507835.5:c.773-59C>A	ENSP00000426839.1:n.773-59C>A
ENST00000508053.5:c.4223-59C>A	ENSP00000424571.1:n.4223-59C>A
ENST00000508989.5:c.4124-59C>A	ENSP00000425596.1:n.4124-59C>A
ENST00000619499.4:c.4220-59C>A	ENSP00000482132.1:n.4220-59C>A
NM_001999.3:c.4223-59C>A	NP_001990.2:n.4223-59C>A
XM_017009228.2:c.4070-59C>A	XP_016864717.1:n.4070-59C>A
NM_001999.4:c.4223-59C>A MANE Select	NP_001990.2:n.4223-59C>A