Canonical Allele Identifier: CA16611686

Gene: FBN2

Linked Data

• ClinVar Variation Id: 411835
• ClinVar RCV Id: RCV000475898
• dbSNP Id: rs1060503511
• MyVariant Identifiers: chr5:g.127666325G>T (hg19) ; chr5:g.128330633G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330633G>T , CM000667.2:g.128330633G>T	GRCh38
NC_000005.9:g.127666325G>T , CM000667.1:g.127666325G>T	GRCh37
NC_000005.8:g.127694224G>T	NCBI36
NG_008750.1:g.212411C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1069C>A
ENST00000703785.1:n.1150C>A
ENST00000262464.9:c.4285C>A MANE Select	ENSP00000262464.4:p.Pro1429Thr
ENST00000262464.8:c.4285C>A	ENSP00000262464.4:p.Pro1429Thr
ENST00000507835.5:c.835C>A	ENSP00000426839.1:p.Pro279Thr
ENST00000508053.5:c.4285C>A	ENSP00000424571.1:p.Pro1429Thr
ENST00000508989.5:c.4186C>A	ENSP00000425596.1:p.Pro1396Thr
ENST00000619499.4:c.4282C>A	ENSP00000482132.1:p.Pro1428Thr
NM_001999.3:c.4285C>A	NP_001990.2:p.Pro1429Thr
XM_017009228.2:c.4132C>A	XP_016864717.1:p.Pro1378Thr
NM_001999.4:c.4285C>A MANE Select	NP_001990.2:p.Pro1429Thr