Canonical Allele Identifier: CA446309464

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127668641G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332949G>A , CM000667.2:g.128332949G>A	GRCh38
NC_000005.9:g.127668641G>A , CM000667.1:g.127668641G>A	GRCh37
NC_000005.8:g.127696540G>A	NCBI36
NG_008750.1:g.210095C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.969C>T
ENST00000703785.1:n.1050C>T
ENST00000262464.9:c.4185C>T MANE Select	ENSP00000262464.4:p.Cys1395=
ENST00000262464.8:c.4185C>T	ENSP00000262464.4:p.Cys1395=
ENST00000507835.5:c.735C>T	ENSP00000426839.1:p.Cys245=
ENST00000508053.5:c.4185C>T	ENSP00000424571.1:p.Cys1395=
ENST00000508989.5:c.4086C>T	ENSP00000425596.1:p.Cys1362=
ENST00000619499.4:c.4182C>T	ENSP00000482132.1:p.Cys1394=
NM_001999.3:c.4185C>T	NP_001990.2:p.Cys1395=
XM_017009228.2:c.4032C>T	XP_016864717.1:p.Cys1344=
NM_001999.4:c.4185C>T MANE Select	NP_001990.2:p.Cys1395=