Canonical Allele Identifier: CA290861

Gene: FBN2

Linked Data

• ClinVar Variation Id: 137320
• ClinVar RCV Id: RCV000125037 ; RCV000308379 ; RCV002310692 ; RCV002277248
• dbSNP Id: rs372872626
• ExAC: 5:127697462 C / T
• gnomAD v2: 5-127697462-C-T
• gnomAD v3: 5-128361769-C-T
• gnomAD v4: 5-128361769-C-T
• MyVariant Identifiers: chr5:g.127697462C>T (hg19) ; chr5:g.128361769C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128361769C>T , CM000667.2:g.128361769C>T	GRCh38
NC_000005.9:g.127697462C>T , CM000667.1:g.127697462C>T	GRCh37
NC_000005.8:g.127725361C>T	NCBI36
NG_008750.1:g.181274G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2508G>A MANE Select	ENSP00000262464.4:p.Thr836=
ENST00000262464.8:c.2508G>A	ENSP00000262464.4:p.Thr836=
ENST00000508053.5:c.2508G>A	ENSP00000424571.1:p.Thr836=
ENST00000508989.5:c.2409G>A	ENSP00000425596.1:p.Thr803=
ENST00000619499.4:c.2505G>A	ENSP00000482132.1:p.Thr835=
NM_001999.3:c.2508G>A	NP_001990.2:p.Thr836=
XM_017009228.2:c.2355G>A	XP_016864717.1:p.Thr785=
NM_001999.4:c.2508G>A MANE Select	NP_001990.2:p.Thr836=