Canonical Allele Identifier: CA3395009

Gene: FBN2

Linked Data

• ClinVar Variation Id: 855987
• ClinVar RCV Id: RCV001061353
• dbSNP Id: rs374493286
• ExAC: 5:127666313 G / A
• gnomAD v2: 5-127666313-G-A
• gnomAD v3: 5-128330621-G-A
• gnomAD v4: 5-128330621-G-A
• MyVariant Identifiers: chr5:g.127666313G>A (hg19) ; chr5:g.128330621G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330621G>A , CM000667.2:g.128330621G>A	GRCh38
NC_000005.9:g.127666313G>A , CM000667.1:g.127666313G>A	GRCh37
NC_000005.8:g.127694212G>A	NCBI36
NG_008750.1:g.212423C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1081C>T
ENST00000703785.1:n.1162C>T
ENST00000262464.9:c.4297C>T MANE Select	ENSP00000262464.4:p.Arg1433Cys
ENST00000262464.8:c.4297C>T	ENSP00000262464.4:p.Arg1433Cys
ENST00000507835.5:c.847C>T	ENSP00000426839.1:p.Arg283Cys
ENST00000508053.5:c.4297C>T	ENSP00000424571.1:p.Arg1433Cys
ENST00000508989.5:c.4198C>T	ENSP00000425596.1:p.Arg1400Cys
ENST00000619499.4:c.4294C>T	ENSP00000482132.1:p.Arg1432Cys
NM_001999.3:c.4297C>T	NP_001990.2:p.Arg1433Cys
XM_017009228.2:c.4144C>T	XP_016864717.1:p.Arg1382Cys
NM_001999.4:c.4297C>T MANE Select	NP_001990.2:p.Arg1433Cys