Canonical Allele Identifier: CA16604686

Gene: FBN2

Linked Data

• ClinVar Variation Id: 388975
• ClinVar RCV Id: RCV000418503 ; RCV001865372 ; RCV003372710
• dbSNP Id: rs1057523293
• gnomAD v3: 5-128263478-C-T
• gnomAD v4: 5-128263478-C-T
• COSMIC: COSM1432827 ; COSM1432828
• MyVariant Identifiers: chr5:g.127599170C>T (hg19) ; chr5:g.128263478C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128263478C>T , CM000667.2:g.128263478C>T	GRCh38
NC_000005.9:g.127599170C>T , CM000667.1:g.127599170C>T	GRCh37
NC_000005.8:g.127627069C>T	NCBI36
NG_008750.1:g.279566G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703782.1:n.254G>A
ENST00000262464.9:c.8139G>A MANE Select	ENSP00000262464.4:p.Thr2713=
ENST00000262464.8:c.8139G>A	ENSP00000262464.4:p.Thr2713=
ENST00000508053.5:c.8139G>A	ENSP00000424571.1:p.Thr2713=
ENST00000619499.4:c.8136G>A	ENSP00000482132.1:p.Thr2712=
NM_001999.3:c.8139G>A	NP_001990.2:p.Thr2713=
XM_017009228.2:c.7986G>A	XP_016864717.1:p.Thr2662=
NM_001999.4:c.8139G>A MANE Select	NP_001990.2:p.Thr2713=