Canonical Allele Identifier: CA2675117598

Gene: FBN2

Linked Data

• gnomAD v4: 5-128338271-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338275del , CM000667.2:g.128338275del	GRCh38
NC_000005.9:g.127673967del , CM000667.1:g.127673967del	GRCh37
NC_000005.8:g.127701866del	NCBI36
NG_008750.1:g.204772del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.257-150del
ENST00000703785.1:n.338-150del
ENST00000262464.9:c.3473-150del MANE Select	ENSP00000262464.4:n.3473-150del
ENST00000262464.8:c.3473-150del	ENSP00000262464.4:n.3473-150del
ENST00000507835.5:c.23-150del	ENSP00000426839.1:n.23-150del
ENST00000508053.5:c.3473-150del	ENSP00000424571.1:n.3473-150del
ENST00000508989.5:c.3374-150del	ENSP00000425596.1:n.3374-150del
ENST00000619499.4:c.3470-150del	ENSP00000482132.1:n.3470-150del
NM_001999.3:c.3473-150del	NP_001990.2:n.3473-150del
XM_017009228.2:c.3320-150del	XP_016864717.1:n.3320-150del
NM_001999.4:c.3473-150del MANE Select	NP_001990.2:n.3473-150del