Canonical Allele Identifier: CA358193

Gene: FBN2

Linked Data

• ClinVar Variation Id: 225102
• ClinVar RCV Id: RCV000210681 ; RCV000489643 ; RCV001439397
• dbSNP Id: rs2307109
• ExAC: 5:127623047 G / A
• gnomAD v2: 5-127623047-G-A
• gnomAD v3: 5-128287355-G-A
• gnomAD v4: 5-128287355-G-A
• MyVariant Identifiers: chr5:g.127623047G>A (hg19) ; chr5:g.128287355G>A (hg38)
• PubMed: PMID:8900230 ; PMID:10797416 ; PMID:11754102 ; PMID:16531736 ; PMID:19006240 ; PMID:24899048 ; PMID:28383543

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128287355G>A , CM000667.2:g.128287355G>A	GRCh38
NC_000005.9:g.127623047G>A , CM000667.1:g.127623047G>A	GRCh37
NC_000005.8:g.127650946G>A	NCBI36
NG_008750.1:g.255689C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.3617C>T
ENST00000262464.9:c.6833C>T MANE Select	ENSP00000262464.4:p.Thr2278Met
ENST00000262464.8:c.6833C>T	ENSP00000262464.4:p.Thr2278Met
ENST00000508053.5:c.6833C>T	ENSP00000424571.1:p.Thr2278Met
ENST00000619499.4:c.6830C>T	ENSP00000482132.1:p.Thr2277Met
NM_001999.3:c.6833C>T	NP_001990.2:p.Thr2278Met
XM_017009228.2:c.6680C>T	XP_016864717.1:p.Thr2227Met
NM_001999.4:c.6833C>T MANE Select	NP_001990.2:p.Thr2278Met