Canonical Allele Identifier: CA324674

Gene: FBN2

Linked Data

• ClinVar Variation Id: 213284
• ClinVar RCV Id: RCV000200116 ; RCV001151277 ; RCV002415837 ; RCV003401065
• dbSNP Id: rs773667668
• ExAC: 5:127705024 G / A
• gnomAD v2: 5-127705024-G-A
• gnomAD v3: 5-128369331-G-A
• gnomAD v4: 5-128369331-G-A
• MyVariant Identifiers: chr5:g.127705024G>A (hg19) ; chr5:g.128369331G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128369331G>A , CM000667.2:g.128369331G>A	GRCh38
NC_000005.9:g.127705024G>A , CM000667.1:g.127705024G>A	GRCh37
NC_000005.8:g.127732923G>A	NCBI36
NG_008750.1:g.173712C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2099C>T MANE Select	ENSP00000262464.4:p.Thr700Ile
ENST00000262464.8:c.2099C>T	ENSP00000262464.4:p.Thr700Ile
ENST00000508053.5:c.2099C>T	ENSP00000424571.1:p.Thr700Ile
ENST00000508989.5:c.2000C>T	ENSP00000425596.1:p.Thr667Ile
ENST00000511489.1:n.320C>T
ENST00000619499.4:c.2096C>T	ENSP00000482132.1:p.Thr699Ile
NM_001999.3:c.2099C>T	NP_001990.2:p.Thr700Ile
XM_017009228.2:c.1946C>T	XP_016864717.1:p.Thr649Ile
NM_001999.4:c.2099C>T MANE Select	NP_001990.2:p.Thr700Ile