Canonical Allele Identifier: CA360753888

Gene: FBN2

Linked Data

• gnomAD v4: 5-128330597-T-A
• MyVariant Identifiers: chr5:g.127666289T>A (hg19) ; chr5:g.128330597T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330597T>A , CM000667.2:g.128330597T>A	GRCh38
NC_000005.9:g.127666289T>A , CM000667.1:g.127666289T>A	GRCh37
NC_000005.8:g.127694188T>A	NCBI36
NG_008750.1:g.212447A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1105A>T
ENST00000703785.1:n.1186A>T
ENST00000262464.9:c.4321A>T MANE Select	ENSP00000262464.4:p.Thr1441Ser
ENST00000262464.8:c.4321A>T	ENSP00000262464.4:p.Thr1441Ser
ENST00000507835.5:c.871A>T	ENSP00000426839.1:p.Thr291Ser
ENST00000508053.5:c.4321A>T	ENSP00000424571.1:p.Thr1441Ser
ENST00000508989.5:c.4222A>T	ENSP00000425596.1:p.Thr1408Ser
ENST00000619499.4:c.4318A>T	ENSP00000482132.1:p.Thr1440Ser
NM_001999.3:c.4321A>T	NP_001990.2:p.Thr1441Ser
XM_017009228.2:c.4168A>T	XP_016864717.1:p.Thr1390Ser
NM_001999.4:c.4321A>T MANE Select	NP_001990.2:p.Thr1441Ser