Canonical Allele Identifier: CA360759177

Gene: FBN2

Linked Data

• gnomAD v4: 5-128338015-A-T
• MyVariant Identifiers: chr5:g.127673707A>T (hg19) ; chr5:g.128338015A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338015A>T , CM000667.2:g.128338015A>T	GRCh38
NC_000005.9:g.127673707A>T , CM000667.1:g.127673707A>T	GRCh37
NC_000005.8:g.127701606A>T	NCBI36
NG_008750.1:g.205029T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.364T>A
ENST00000703785.1:n.445T>A
ENST00000262464.9:c.3580T>A MANE Select	ENSP00000262464.4:p.Ser1194Thr
ENST00000262464.8:c.3580T>A	ENSP00000262464.4:p.Ser1194Thr
ENST00000507835.5:c.130T>A	ENSP00000426839.1:p.Ser44Thr
ENST00000508053.5:c.3580T>A	ENSP00000424571.1:p.Ser1194Thr
ENST00000508989.5:c.3481T>A	ENSP00000425596.1:p.Ser1161Thr
ENST00000619499.4:c.3577T>A	ENSP00000482132.1:p.Ser1193Thr
NM_001999.3:c.3580T>A	NP_001990.2:p.Ser1194Thr
XM_017009228.2:c.3427T>A	XP_016864717.1:p.Ser1143Thr
NM_001999.4:c.3580T>A MANE Select	NP_001990.2:p.Ser1194Thr