Canonical Allele Identifier: CA1081363806

Gene: FBN2

Linked Data

• dbSNP Id: rs1750729311
• gnomAD v3: 5-128332852-C-A
• gnomAD v4: 5-128332852-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332852C>A , CM000667.2:g.128332852C>A	GRCh38
NC_000005.9:g.127668544C>A , CM000667.1:g.127668544C>A	GRCh37
NC_000005.8:g.127696443C>A	NCBI36
NG_008750.1:g.210192G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1006+60G>T
ENST00000703785.1:n.1087+60G>T
ENST00000262464.9:c.4222+60G>T MANE Select	ENSP00000262464.4:n.4222+60G>T
ENST00000262464.8:c.4222+60G>T	ENSP00000262464.4:n.4222+60G>T
ENST00000507835.5:c.772+60G>T	ENSP00000426839.1:n.772+60G>T
ENST00000508053.5:c.4222+60G>T	ENSP00000424571.1:n.4222+60G>T
ENST00000508989.5:c.4123+60G>T	ENSP00000425596.1:n.4123+60G>T
ENST00000619499.4:c.4219+60G>T	ENSP00000482132.1:n.4219+60G>T
NM_001999.3:c.4222+60G>T	NP_001990.2:n.4222+60G>T
XM_017009228.2:c.4069+60G>T	XP_016864717.1:n.4069+60G>T
NM_001999.4:c.4222+60G>T MANE Select	NP_001990.2:n.4222+60G>T