Canonical Allele Identifier: CA360759465

Gene: FBN2

Linked Data

• COSMIC: COSM334618 ; COSM334619
• MyVariant Identifiers: chr5:g.127673779T>A (hg19) ; chr5:g.128338087T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338087T>A , CM000667.2:g.128338087T>A	GRCh38
NC_000005.9:g.127673779T>A , CM000667.1:g.127673779T>A	GRCh37
NC_000005.8:g.127701678T>A	NCBI36
NG_008750.1:g.204957A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.292A>T
ENST00000703785.1:n.373A>T
ENST00000262464.9:c.3508A>T MANE Select	ENSP00000262464.4:p.Arg1170Trp
ENST00000262464.8:c.3508A>T	ENSP00000262464.4:p.Arg1170Trp
ENST00000507835.5:c.58A>T	ENSP00000426839.1:p.Arg20Trp
ENST00000508053.5:c.3508A>T	ENSP00000424571.1:p.Arg1170Trp
ENST00000508989.5:c.3409A>T	ENSP00000425596.1:p.Arg1137Trp
ENST00000619499.4:c.3505A>T	ENSP00000482132.1:p.Arg1169Trp
NM_001999.3:c.3508A>T	NP_001990.2:p.Arg1170Trp
XM_017009228.2:c.3355A>T	XP_016864717.1:p.Arg1119Trp
NM_001999.4:c.3508A>T MANE Select	NP_001990.2:p.Arg1170Trp