Canonical Allele Identifier: CA3395673

Gene: FBN2

Linked Data

• ClinVar Variation Id: 391264
• ClinVar RCV Id: RCV000419143 ; RCV000727006 ; RCV001442055 ; RCV002418329
• dbSNP Id: rs778762668
• ExAC: 5:127710403 C / T
• gnomAD v2: 5-127710403-C-T
• gnomAD v3: 5-128374710-C-T
• gnomAD v4: 5-128374710-C-T
• MyVariant Identifiers: chr5:g.127710403C>T (hg19) ; chr5:g.128374710C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128374710C>T , CM000667.2:g.128374710C>T	GRCh38
NC_000005.9:g.127710403C>T , CM000667.1:g.127710403C>T	GRCh37
NC_000005.8:g.127738302C>T	NCBI36
NG_008750.1:g.168333G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2013G>A MANE Select	ENSP00000262464.4:p.Gly671=
ENST00000262464.8:c.2013G>A	ENSP00000262464.4:p.Gly671=
ENST00000508053.5:c.2013G>A	ENSP00000424571.1:p.Gly671=
ENST00000508989.5:c.1914G>A	ENSP00000425596.1:p.Gly638=
ENST00000511489.1:n.234G>A
ENST00000619499.4:c.2010G>A	ENSP00000482132.1:p.Gly670=
NM_001999.3:c.2013G>A	NP_001990.2:p.Gly671=
XM_017009228.2:c.1860G>A	XP_016864717.1:p.Gly620=
NM_001999.4:c.2013G>A MANE Select	NP_001990.2:p.Gly671=