Canonical Allele Identifier: CA360759746

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338938C>A , CM000667.2:g.128338938C>A	GRCh38
NC_000005.9:g.127674630C>A , CM000667.1:g.127674630C>A	GRCh37
NC_000005.8:g.127702529C>A	NCBI36
NG_008750.1:g.204106G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.3467G>T MANE Select	NP_001990.2:p.Cys1156Phe
ENST00000262464.9:c.3467G>T MANE Select	ENSP00000262464.4:p.Cys1156Phe
NM_001999.3:c.3467G>T	NP_001990.2:p.Cys1156Phe
ENST00000262464.8:c.3467G>T	ENSP00000262464.4:p.Cys1156Phe
ENST00000507835.5:c.17G>T	ENSP00000426839.1:p.Cys6Phe
ENST00000508053.5:c.3467G>T	ENSP00000424571.1:p.Cys1156Phe
ENST00000508989.5:c.3368G>T	ENSP00000425596.1:p.Cys1123Phe
ENST00000619499.4:c.3464G>T	ENSP00000482132.1:p.Cys1155Phe
ENST00000703783.1:n.251G>T
ENST00000703785.1:n.332G>T
XM_017009228.2:c.3314G>T	XP_016864717.1:p.Cys1105Phe