Canonical Allele Identifier: CA446312320

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127693002G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357310G>T , CM000667.2:g.128357310G>T	GRCh38
NC_000005.9:g.127693002G>T , CM000667.1:g.127693002G>T	GRCh37
NC_000005.8:g.127720901G>T	NCBI36
NG_008750.1:g.185734C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2640C>A MANE Select	ENSP00000262464.4:p.Gly880=
ENST00000262464.8:c.2640C>A	ENSP00000262464.4:p.Gly880=
ENST00000508053.5:c.2640C>A	ENSP00000424571.1:p.Gly880=
ENST00000508989.5:c.2541C>A	ENSP00000425596.1:p.Gly847=
ENST00000619499.4:c.2637C>A	ENSP00000482132.1:p.Gly879=
NM_001999.3:c.2640C>A	NP_001990.2:p.Gly880=
XM_017009228.2:c.2487C>A	XP_016864717.1:p.Gly829=
NM_001999.4:c.2640C>A MANE Select	NP_001990.2:p.Gly880=