Canonical Allele Identifier: CA2675117198

Gene: FBN2

Linked Data

• gnomAD v4: 5-128335725-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335725C>A , CM000667.2:g.128335725C>A	GRCh38
NC_000005.9:g.127671417C>A , CM000667.1:g.127671417C>A	GRCh37
NC_000005.8:g.127699316C>A	NCBI36
NG_008750.1:g.207319G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.509-148G>T
ENST00000703785.1:n.590-148G>T
ENST00000262464.9:c.3725-148G>T MANE Select	ENSP00000262464.4:n.3725-148G>T
ENST00000262464.8:c.3725-148G>T	ENSP00000262464.4:n.3725-148G>T
ENST00000507835.5:c.275-148G>T	ENSP00000426839.1:n.275-148G>T
ENST00000508053.5:c.3725-148G>T	ENSP00000424571.1:n.3725-148G>T
ENST00000508989.5:c.3626-148G>T	ENSP00000425596.1:n.3626-148G>T
ENST00000619499.4:c.3722-148G>T	ENSP00000482132.1:n.3722-148G>T
NM_001999.3:c.3725-148G>T	NP_001990.2:n.3725-148G>T
XM_017009228.2:c.3572-148G>T	XP_016864717.1:n.3572-148G>T
NM_001999.4:c.3725-148G>T MANE Select	NP_001990.2:n.3725-148G>T