Canonical Allele Identifier: CA360753800

Gene: FBN2

Linked Data

• gnomAD v4: 5-128330576-A-T
• MyVariant Identifiers: chr5:g.127666268A>T (hg19) ; chr5:g.128330576A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330576A>T , CM000667.2:g.128330576A>T	GRCh38
NC_000005.9:g.127666268A>T , CM000667.1:g.127666268A>T	GRCh37
NC_000005.8:g.127694167A>T	NCBI36
NG_008750.1:g.212468T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1126T>A
ENST00000703785.1:n.1207T>A
ENST00000262464.9:c.4342T>A MANE Select	ENSP00000262464.4:p.Ser1448Thr
ENST00000262464.8:c.4342T>A	ENSP00000262464.4:p.Ser1448Thr
ENST00000507835.5:c.892T>A	ENSP00000426839.1:p.Ser298Thr
ENST00000508053.5:c.4342T>A	ENSP00000424571.1:p.Ser1448Thr
ENST00000508989.5:c.4243T>A	ENSP00000425596.1:p.Ser1415Thr
ENST00000619499.4:c.4339T>A	ENSP00000482132.1:p.Ser1447Thr
NM_001999.3:c.4342T>A	NP_001990.2:p.Ser1448Thr
XM_017009228.2:c.4189T>A	XP_016864717.1:p.Ser1397Thr
NM_001999.4:c.4342T>A MANE Select	NP_001990.2:p.Ser1448Thr