Canonical Allele Identifier: CA321340

Gene: FBN2

Linked Data

• ClinVar Variation Id: 213274
• ClinVar RCV Id: RCV000196921 ; RCV001729450 ; RCV002311054
• dbSNP Id: rs199587570
• ExAC: 5:127727788 C / A
• gnomAD v2: 5-127727788-C-A
• gnomAD v3: 5-128392095-C-A
• gnomAD v4: 5-128392095-C-A
• MyVariant Identifiers: chr5:g.127727788C>A (hg19) ; chr5:g.128392095C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128392095C>A , CM000667.2:g.128392095C>A	GRCh38
NC_000005.9:g.127727788C>A , CM000667.1:g.127727788C>A	GRCh37
NC_000005.8:g.127755687C>A	NCBI36
NG_008750.1:g.150948G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703787.1:n.1233G>T
ENST00000262464.9:c.1526G>T MANE Select	ENSP00000262464.4:p.Arg509Leu
ENST00000262464.8:c.1526G>T	ENSP00000262464.4:p.Arg509Leu
ENST00000508053.5:c.1526G>T	ENSP00000424571.1:p.Arg509Leu
ENST00000508989.5:c.1427G>T	ENSP00000425596.1:p.Arg476Leu
ENST00000619499.4:c.1523G>T	ENSP00000482132.1:p.Arg508Leu
NM_001999.3:c.1526G>T	NP_001990.2:p.Arg509Leu
XM_017009228.2:c.1373G>T	XP_016864717.1:p.Arg458Leu
NM_001999.4:c.1526G>T MANE Select	NP_001990.2:p.Arg509Leu