Canonical Allele Identifier: CA3395268

Gene: FBN2

Linked Data

• ClinVar Variation Id: 263840
• ClinVar RCV Id: RCV000247075 ; RCV001651299 ; RCV003330609 ; RCV002518999
• dbSNP Id: rs532983875
• ExAC: 5:127680078 C / T
• gnomAD v2: 5-127680078-C-T
• gnomAD v3: 5-128344386-C-T
• gnomAD v4: 5-128344386-C-T
• COSMIC: COSM357891 ; COSM357892
• MyVariant Identifiers: chr5:g.127680078C>T (hg19) ; chr5:g.128344386C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128344386C>T , CM000667.2:g.128344386C>T	GRCh38
NC_000005.9:g.127680078C>T , CM000667.1:g.127680078C>T	GRCh37
NC_000005.8:g.127707977C>T	NCBI36
NG_008750.1:g.198658G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.3342G>A MANE Select	ENSP00000262464.4:p.Thr1114=
ENST00000262464.8:c.3342G>A	ENSP00000262464.4:p.Thr1114=
ENST00000508053.5:c.3342G>A	ENSP00000424571.1:p.Thr1114=
ENST00000508989.5:c.3243G>A	ENSP00000425596.1:p.Thr1081=
ENST00000619499.4:c.3339G>A	ENSP00000482132.1:p.Thr1113=
NM_001999.3:c.3342G>A	NP_001990.2:p.Thr1114=
XM_017009228.2:c.3189G>A	XP_016864717.1:p.Thr1063=
NM_001999.4:c.3342G>A MANE Select	NP_001990.2:p.Thr1114=