Canonical Allele Identifier: CA3395873

Gene: FBN2

Linked Data

• ClinVar Variation Id: 425353
• ClinVar RCV Id: RCV000487861 ; RCV002526000 ; RCV003302721
• dbSNP Id: rs532059159
• ExAC: 5:127730906 C / T
• gnomAD v2: 5-127730906-C-T
• gnomAD v3: 5-128395213-C-T
• gnomAD v4: 5-128395213-C-T
• MyVariant Identifiers: chr5:g.127730906C>T (hg19) ; chr5:g.128395213C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128395213C>T , CM000667.2:g.128395213C>T	GRCh38
NC_000005.9:g.127730906C>T , CM000667.1:g.127730906C>T	GRCh37
NC_000005.8:g.127758805C>T	NCBI36
NG_008750.1:g.147830G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703787.1:n.847G>A
ENST00000262464.9:c.1140G>A MANE Select	ENSP00000262464.4:p.Pro380=
ENST00000262464.8:c.1140G>A	ENSP00000262464.4:p.Pro380=
ENST00000508053.5:c.1140G>A	ENSP00000424571.1:p.Pro380=
ENST00000508989.5:c.1041G>A	ENSP00000425596.1:p.Pro347=
ENST00000619499.4:c.1137G>A	ENSP00000482132.1:p.Pro379=
NM_001999.3:c.1140G>A	NP_001990.2:p.Pro380=
XM_017009228.2:c.1079-1845G>A	XP_016864717.1:n.1079-1845G>A
NM_001999.4:c.1140G>A MANE Select	NP_001990.2:p.Pro380=