Canonical Allele Identifier: CA3395014

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330635G>T , CM000667.2:g.128330635G>T	GRCh38
NC_000005.9:g.127666327G>T , CM000667.1:g.127666327G>T	GRCh37
NC_000005.8:g.127694226G>T	NCBI36
NG_008750.1:g.212409C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.4283C>A MANE Select	NP_001990.2:p.Thr1428Asn
ENST00000262464.9:c.4283C>A MANE Select	ENSP00000262464.4:p.Thr1428Asn
NM_001999.3:c.4283C>A	NP_001990.2:p.Thr1428Asn
ENST00000262464.8:c.4283C>A	ENSP00000262464.4:p.Thr1428Asn
ENST00000507835.5:c.833C>A	ENSP00000426839.1:p.Thr278Asn
ENST00000508053.5:c.4283C>A	ENSP00000424571.1:p.Thr1428Asn
ENST00000508989.5:c.4184C>A	ENSP00000425596.1:p.Thr1395Asn
ENST00000619499.4:c.4280C>A	ENSP00000482132.1:p.Thr1427Asn
ENST00000703783.1:n.1067C>A
ENST00000703785.1:n.1148C>A
XM_017009228.2:c.4130C>A	XP_016864717.1:p.Thr1377Asn