Canonical Allele Identifier: CA3395865

Gene: FBN2

Linked Data

• ClinVar Variation Id: 263337
• ClinVar RCV Id: RCV000250847
• dbSNP Id: rs563228953
• ExAC: 5:127730866 G / A
• gnomAD v2: 5-127730866-G-A
• gnomAD v3: 5-128395173-G-A
• gnomAD v4: 5-128395173-G-A
• MyVariant Identifiers: chr5:g.127730866G>A (hg19) ; chr5:g.128395173G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128395173G>A , CM000667.2:g.128395173G>A	GRCh38
NC_000005.9:g.127730866G>A , CM000667.1:g.127730866G>A	GRCh37
NC_000005.8:g.127758765G>A	NCBI36
NG_008750.1:g.147870C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703787.1:n.887C>T
ENST00000262464.9:c.1180C>T MANE Select	ENSP00000262464.4:p.Arg394Cys
ENST00000262464.8:c.1180C>T	ENSP00000262464.4:p.Arg394Cys
ENST00000508053.5:c.1180C>T	ENSP00000424571.1:p.Arg394Cys
ENST00000508989.5:c.1081C>T	ENSP00000425596.1:p.Arg361Cys
ENST00000619499.4:c.1177C>T	ENSP00000482132.1:p.Arg393Cys
NM_001999.3:c.1180C>T	NP_001990.2:p.Arg394Cys
XM_017009228.2:c.1079-1805C>T	XP_016864717.1:n.1079-1805C>T
NM_001999.4:c.1180C>T MANE Select	NP_001990.2:p.Arg394Cys