Canonical Allele Identifier: CA2675117746

Gene: FBN2

Linked Data

• gnomAD v4: 5-128339084-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128339084A>T , CM000667.2:g.128339084A>T	GRCh38
NC_000005.9:g.127674776A>T , CM000667.1:g.127674776A>T	GRCh37
NC_000005.8:g.127702675A>T	NCBI36
NG_008750.1:g.203960T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.105T>A
ENST00000703785.1:n.186T>A
ENST00000262464.9:c.3344-23T>A MANE Select	ENSP00000262464.4:n.3344-23T>A
ENST00000262464.8:c.3344-23T>A	ENSP00000262464.4:n.3344-23T>A
ENST00000507835.5:c.-130T>A	ENSP00000426839.1:n.-130T>A
ENST00000508053.5:c.3344-23T>A	ENSP00000424571.1:n.3344-23T>A
ENST00000508989.5:c.3245-23T>A	ENSP00000425596.1:n.3245-23T>A
ENST00000619499.4:c.3341-23T>A	ENSP00000482132.1:n.3341-23T>A
NM_001999.3:c.3344-23T>A	NP_001990.2:n.3344-23T>A
XM_017009228.2:c.3191-23T>A	XP_016864717.1:n.3191-23T>A
NM_001999.4:c.3344-23T>A MANE Select	NP_001990.2:n.3344-23T>A