Canonical Allele Identifier: CA288837

Gene: FBN2

Linked Data

• ClinVar Variation Id: 129050
• ClinVar RCV Id: RCV000117031 ; RCV000332017 ; RCV001795166 ; RCV002277173 ; RCV002310669
• dbSNP Id: rs34600572
• ExAC: 5:127614376 C / A
• gnomAD v2: 5-127614376-C-A
• gnomAD v3: 5-128278684-C-A
• gnomAD v4: 5-128278684-C-A
• MyVariant Identifiers: chr5:g.127614376C>A (hg19) ; chr5:g.128278684C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128278684C>A , CM000667.2:g.128278684C>A	GRCh38
NC_000005.9:g.127614376C>A , CM000667.1:g.127614376C>A	GRCh37
NC_000005.8:g.127642275C>A	NCBI36
NG_008750.1:g.264360G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.4080G>T
ENST00000262464.9:c.7296G>T MANE Select	ENSP00000262464.4:p.Gln2432His
ENST00000262464.8:c.7296G>T	ENSP00000262464.4:p.Gln2432His
ENST00000508053.5:c.7296G>T	ENSP00000424571.1:p.Gln2432His
ENST00000619499.4:c.7293G>T	ENSP00000482132.1:p.Gln2431His
NM_001999.3:c.7296G>T	NP_001990.2:p.Gln2432His
XM_017009228.2:c.7143G>T	XP_016864717.1:p.Gln2381His
NM_001999.4:c.7296G>T MANE Select	NP_001990.2:p.Gln2432His