Canonical Allele Identifier: CA446306072

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127730825G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128395132G>A , CM000667.2:g.128395132G>A	GRCh38
NC_000005.9:g.127730825G>A , CM000667.1:g.127730825G>A	GRCh37
NC_000005.8:g.127758724G>A	NCBI36
NG_008750.1:g.147911C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703787.1:n.928C>T
ENST00000262464.9:c.1221C>T MANE Select	ENSP00000262464.4:p.Val407=
ENST00000262464.8:c.1221C>T	ENSP00000262464.4:p.Val407=
ENST00000508053.5:c.1221C>T	ENSP00000424571.1:p.Val407=
ENST00000508989.5:c.1122C>T	ENSP00000425596.1:p.Val374=
ENST00000619499.4:c.1218C>T	ENSP00000482132.1:p.Val406=
NM_001999.3:c.1221C>T	NP_001990.2:p.Val407=
XM_017009228.2:c.1079-1764C>T	XP_016864717.1:n.1079-1764C>T
NM_001999.4:c.1221C>T MANE Select	NP_001990.2:p.Val407=