Canonical Allele Identifier: CA360754166

Gene: FBN2

Linked Data

• ClinVar Variation Id: 1016918
• ClinVar RCV Id: RCV001315993
• dbSNP Id: rs1750669779
• MyVariant Identifiers: chr5:g.127666363G>A (hg19) ; chr5:g.128330671G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330671G>A , CM000667.2:g.128330671G>A	GRCh38
NC_000005.9:g.127666363G>A , CM000667.1:g.127666363G>A	GRCh37
NC_000005.8:g.127694262G>A	NCBI36
NG_008750.1:g.212373C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1031C>T
ENST00000703785.1:n.1112C>T
ENST00000262464.9:c.4247C>T MANE Select	ENSP00000262464.4:p.Thr1416Ile
ENST00000262464.8:c.4247C>T	ENSP00000262464.4:p.Thr1416Ile
ENST00000507835.5:c.797C>T	ENSP00000426839.1:p.Thr266Ile
ENST00000508053.5:c.4247C>T	ENSP00000424571.1:p.Thr1416Ile
ENST00000508989.5:c.4148C>T	ENSP00000425596.1:p.Thr1383Ile
ENST00000619499.4:c.4244C>T	ENSP00000482132.1:p.Thr1415Ile
NM_001999.3:c.4247C>T	NP_001990.2:p.Thr1416Ile
XM_017009228.2:c.4094C>T	XP_016864717.1:p.Thr1365Ile
NM_001999.4:c.4247C>T MANE Select	NP_001990.2:p.Thr1416Ile