Canonical Allele Identifier: CA360754857

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127668644G>T (hg19) ; chr5:g.128332952G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332952G>T , CM000667.2:g.128332952G>T	GRCh38
NC_000005.9:g.127668644G>T , CM000667.1:g.127668644G>T	GRCh37
NC_000005.8:g.127696543G>T	NCBI36
NG_008750.1:g.210092C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.966C>A
ENST00000703785.1:n.1047C>A
ENST00000262464.9:c.4182C>A MANE Select	ENSP00000262464.4:p.Ser1394Arg
ENST00000262464.8:c.4182C>A	ENSP00000262464.4:p.Ser1394Arg
ENST00000507835.5:c.732C>A	ENSP00000426839.1:p.Ser244Arg
ENST00000508053.5:c.4182C>A	ENSP00000424571.1:p.Ser1394Arg
ENST00000508989.5:c.4083C>A	ENSP00000425596.1:p.Ser1361Arg
ENST00000619499.4:c.4179C>A	ENSP00000482132.1:p.Ser1393Arg
NM_001999.3:c.4182C>A	NP_001990.2:p.Ser1394Arg
XM_017009228.2:c.4029C>A	XP_016864717.1:p.Ser1343Arg
NM_001999.4:c.4182C>A MANE Select	NP_001990.2:p.Ser1394Arg