Canonical Allele Identifier: CA360758424

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128336101C>A , CM000667.2:g.128336101C>A	GRCh38
NC_000005.9:g.127671793C>A , CM000667.1:g.127671793C>A	GRCh37
NC_000005.8:g.127699692C>A	NCBI36
NG_008750.1:g.206943G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.3611G>T MANE Select	NP_001990.2:p.Cys1204Phe
ENST00000262464.9:c.3611G>T MANE Select	ENSP00000262464.4:p.Cys1204Phe
NM_001999.3:c.3611G>T	NP_001990.2:p.Cys1204Phe
ENST00000262464.8:c.3611G>T	ENSP00000262464.4:p.Cys1204Phe
ENST00000507835.5:c.161G>T	ENSP00000426839.1:p.Cys54Phe
ENST00000508053.5:c.3611G>T	ENSP00000424571.1:p.Cys1204Phe
ENST00000508989.5:c.3512G>T	ENSP00000425596.1:p.Cys1171Phe
ENST00000619499.4:c.3608G>T	ENSP00000482132.1:p.Cys1203Phe
ENST00000703783.1:n.395G>T
ENST00000703785.1:n.476G>T
XM_017009228.2:c.3458G>T	XP_016864717.1:p.Cys1153Phe