Canonical Allele Identifier: CA3394178

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128278768G>A , CM000667.2:g.128278768G>A	GRCh38
NC_000005.9:g.127614460G>A , CM000667.1:g.127614460G>A	GRCh37
NC_000005.8:g.127642359G>A	NCBI36
NG_008750.1:g.264276C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.7212C>T MANE Select	NP_001990.2:p.Leu2404=
ENST00000262464.9:c.7212C>T MANE Select	ENSP00000262464.4:p.Leu2404=
NM_001999.3:c.7212C>T	NP_001990.2:p.Leu2404=
ENST00000262464.8:c.7212C>T	ENSP00000262464.4:p.Leu2404=
ENST00000508053.5:c.7212C>T	ENSP00000424571.1:p.Leu2404=
ENST00000619499.4:c.7209C>T	ENSP00000482132.1:p.Leu2403=
ENST00000703783.1:n.3996C>T
XM_017009228.2:c.7059C>T	XP_016864717.1:p.Leu2353=