Canonical Allele Identifier: CA3395048

Gene: FBN2

Linked Data

• ClinVar Variation Id: 755234
• ClinVar RCV Id: RCV001394950
• dbSNP Id: rs775405425
• ExAC: 5:127668692 G / A
• gnomAD v2: 5-127668692-G-A
• gnomAD v3: 5-128333000-G-A
• gnomAD v4: 5-128333000-G-A
• COSMIC: COSM175018 ; COSM5466265
• MyVariant Identifiers: chr5:g.127668692G>A (hg19) ; chr5:g.128333000G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128333000G>A , CM000667.2:g.128333000G>A	GRCh38
NC_000005.9:g.127668692G>A , CM000667.1:g.127668692G>A	GRCh37
NC_000005.8:g.127696591G>A	NCBI36
NG_008750.1:g.210044C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.918C>T
ENST00000703785.1:n.999C>T
ENST00000262464.9:c.4134C>T MANE Select	ENSP00000262464.4:p.Cys1378=
ENST00000262464.8:c.4134C>T	ENSP00000262464.4:p.Cys1378=
ENST00000507835.5:c.684C>T	ENSP00000426839.1:p.Cys228=
ENST00000508053.5:c.4134C>T	ENSP00000424571.1:p.Cys1378=
ENST00000508989.5:c.4035C>T	ENSP00000425596.1:p.Cys1345=
ENST00000619499.4:c.4131C>T	ENSP00000482132.1:p.Cys1377=
NM_001999.3:c.4134C>T	NP_001990.2:p.Cys1378=
XM_017009228.2:c.3981C>T	XP_016864717.1:p.Cys1327=
NM_001999.4:c.4134C>T MANE Select	NP_001990.2:p.Cys1378=