Canonical Allele Identifier: CA360758096

Gene: FBN2

Linked Data

• dbSNP Id: rs1219578759
• gnomAD v3: 5-128335547-C-T
• gnomAD v4: 5-128335547-C-T
• MyVariant Identifiers: chr5:g.127671239C>T (hg19) ; chr5:g.128335547C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335547C>T , CM000667.2:g.128335547C>T	GRCh38
NC_000005.9:g.127671239C>T , CM000667.1:g.127671239C>T	GRCh37
NC_000005.8:g.127699138C>T	NCBI36
NG_008750.1:g.207497G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.539G>A
ENST00000703785.1:n.620G>A
ENST00000262464.9:c.3755G>A MANE Select	ENSP00000262464.4:p.Gly1252Asp
ENST00000262464.8:c.3755G>A	ENSP00000262464.4:p.Gly1252Asp
ENST00000507835.5:c.305G>A	ENSP00000426839.1:p.Gly102Asp
ENST00000508053.5:c.3755G>A	ENSP00000424571.1:p.Gly1252Asp
ENST00000508989.5:c.3656G>A	ENSP00000425596.1:p.Gly1219Asp
ENST00000619499.4:c.3752G>A	ENSP00000482132.1:p.Gly1251Asp
NM_001999.3:c.3755G>A	NP_001990.2:p.Gly1252Asp
XM_017009228.2:c.3602G>A	XP_016864717.1:p.Gly1201Asp
NM_001999.4:c.3755G>A MANE Select	NP_001990.2:p.Gly1252Asp