Canonical Allele Identifier: CA446309294

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127666383C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330691C>T , CM000667.2:g.128330691C>T	GRCh38
NC_000005.9:g.127666383C>T , CM000667.1:g.127666383C>T	GRCh37
NC_000005.8:g.127694282C>T	NCBI36
NG_008750.1:g.212353G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1011G>A
ENST00000703785.1:n.1092G>A
ENST00000262464.9:c.4227G>A MANE Select	ENSP00000262464.4:p.Leu1409=
ENST00000262464.8:c.4227G>A	ENSP00000262464.4:p.Leu1409=
ENST00000507835.5:c.777G>A	ENSP00000426839.1:p.Leu259=
ENST00000508053.5:c.4227G>A	ENSP00000424571.1:p.Leu1409=
ENST00000508989.5:c.4128G>A	ENSP00000425596.1:p.Leu1376=
ENST00000619499.4:c.4224G>A	ENSP00000482132.1:p.Leu1408=
NM_001999.3:c.4227G>A	NP_001990.2:p.Leu1409=
XM_017009228.2:c.4074G>A	XP_016864717.1:p.Leu1358=
NM_001999.4:c.4227G>A MANE Select	NP_001990.2:p.Leu1409=