Canonical Allele Identifier: CA1581271229

Gene: FBN2

Linked Data

• ClinVar Variation Id: 2029521
• ClinVar RCV Id: RCV002880864
• dbSNP Id: rs1750922757

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128339073G>A , CM000667.2:g.128339073G>A	GRCh38
NC_000005.9:g.127674765G>A , CM000667.1:g.127674765G>A	GRCh37
NC_000005.8:g.127702664G>A	NCBI36
NG_008750.1:g.203971C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.116C>T
ENST00000703785.1:n.197C>T
ENST00000262464.9:c.3344-12C>T MANE Select	ENSP00000262464.4:n.3344-12C>T
ENST00000262464.8:c.3344-12C>T	ENSP00000262464.4:n.3344-12C>T
ENST00000507835.5:c.-119C>T	ENSP00000426839.1:n.-119C>T
ENST00000508053.5:c.3344-12C>T	ENSP00000424571.1:n.3344-12C>T
ENST00000508989.5:c.3245-12C>T	ENSP00000425596.1:n.3245-12C>T
ENST00000619499.4:c.3341-12C>T	ENSP00000482132.1:n.3341-12C>T
NM_001999.3:c.3344-12C>T	NP_001990.2:n.3344-12C>T
XM_017009228.2:c.3191-12C>T	XP_016864717.1:n.3191-12C>T
NM_001999.4:c.3344-12C>T MANE Select	NP_001990.2:n.3344-12C>T