Canonical Allele Identifier: CA446308439

Gene: FBN2

Linked Data

• ClinVar Variation Id: 2969180
• ClinVar RCV Id: RCV003826850
• gnomAD v4: 5-128527933-C-T
• MyVariant Identifiers: chr5:g.127863626C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128527933C>T , CM000667.2:g.128527933C>T	GRCh38
NC_000005.9:g.127863626C>T , CM000667.1:g.127863626C>T	GRCh37
NC_000005.8:g.127891525C>T	NCBI36
NG_008750.1:g.15110G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508053.6:c.471G>A	ENSP00000424571.2:p.Gly157=
ENST00000703787.1:n.178G>A
ENST00000262464.9:c.471G>A MANE Select	ENSP00000262464.4:p.Gly157=
ENST00000262464.8:c.471G>A	ENSP00000262464.4:p.Gly157=
ENST00000502468.5:c.471G>A	ENSP00000424753.1:p.Gly157=
ENST00000508053.5:c.471G>A	ENSP00000424571.1:p.Gly157=
ENST00000508989.5:c.372G>A	ENSP00000425596.1:p.Gly124=
ENST00000514742.1:n.1091G>A
ENST00000619499.4:c.471G>A	ENSP00000482132.1:p.Gly157=
ENST00000620257.1:c.471G>A	ENSP00000479157.1:p.Gly157=
NM_001999.3:c.471G>A	NP_001990.2:p.Gly157=
XM_017009228.2:c.471G>A	XP_016864717.1:p.Gly157=
NM_001999.4:c.471G>A MANE Select	NP_001990.2:p.Gly157=