Canonical Allele Identifier: CA446310849

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127674716G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128339024G>A , CM000667.2:g.128339024G>A	GRCh38
NC_000005.9:g.127674716G>A , CM000667.1:g.127674716G>A	GRCh37
NC_000005.8:g.127702615G>A	NCBI36
NG_008750.1:g.204020C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.165C>T
ENST00000703785.1:n.246C>T
ENST00000262464.9:c.3381C>T MANE Select	ENSP00000262464.4:p.Gly1127=
ENST00000262464.8:c.3381C>T	ENSP00000262464.4:p.Gly1127=
ENST00000507835.5:c.-70C>T	ENSP00000426839.1:n.-70C>T
ENST00000508053.5:c.3381C>T	ENSP00000424571.1:p.Gly1127=
ENST00000508989.5:c.3282C>T	ENSP00000425596.1:p.Gly1094=
ENST00000619499.4:c.3378C>T	ENSP00000482132.1:p.Gly1126=
NM_001999.3:c.3381C>T	NP_001990.2:p.Gly1127=
XM_017009228.2:c.3228C>T	XP_016864717.1:p.Gly1076=
NM_001999.4:c.3381C>T MANE Select	NP_001990.2:p.Gly1127=