Canonical Allele Identifier: CA2675118719

Gene: FBN2

Linked Data

• gnomAD v4: 5-128357159-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357159T>A , CM000667.2:g.128357159T>A	GRCh38
NC_000005.9:g.127692851T>A , CM000667.1:g.127692851T>A	GRCh37
NC_000005.8:g.127720750T>A	NCBI36
NG_008750.1:g.185885A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2674+117A>T MANE Select	ENSP00000262464.4:n.2674+117A>T
ENST00000262464.8:c.2674+117A>T	ENSP00000262464.4:n.2674+117A>T
ENST00000508053.5:c.2674+117A>T	ENSP00000424571.1:n.2674+117A>T
ENST00000508989.5:c.2575+117A>T	ENSP00000425596.1:n.2575+117A>T
ENST00000619499.4:c.2671+117A>T	ENSP00000482132.1:n.2671+117A>T
NM_001999.3:c.2674+117A>T	NP_001990.2:n.2674+117A>T
XM_017009228.2:c.2521+117A>T	XP_016864717.1:n.2521+117A>T
NM_001999.4:c.2674+117A>T MANE Select	NP_001990.2:n.2674+117A>T