Canonical Allele Identifier: CA322770

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128288537C>T , CM000667.2:g.128288537C>T	GRCh38
NC_000005.9:g.127624229C>T , CM000667.1:g.127624229C>T	GRCh37
NC_000005.8:g.127652128C>T	NCBI36
NG_008750.1:g.254507G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.6658G>A MANE Select	NP_001990.2:p.Gly2220Ser
ENST00000262464.9:c.6658G>A MANE Select	ENSP00000262464.4:p.Gly2220Ser
NM_001999.3:c.6658G>A	NP_001990.2:p.Gly2220Ser
ENST00000262464.8:c.6658G>A	ENSP00000262464.4:p.Gly2220Ser
ENST00000508053.5:c.6658G>A	ENSP00000424571.1:p.Gly2220Ser
ENST00000619499.4:c.6655G>A	ENSP00000482132.1:p.Gly2219Ser
ENST00000703783.1:n.3442G>A
ENST00000703785.1:n.3361G>A
XM_017009228.2:c.6505G>A	XP_016864717.1:p.Gly2169Ser