Canonical Allele Identifier: CA3394964

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128328714C>T , CM000667.2:g.128328714C>T	GRCh38
NC_000005.9:g.127664406C>T , CM000667.1:g.127664406C>T	GRCh37
NC_000005.8:g.127692305C>T	NCBI36
NG_008750.1:g.214330G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.4453G>A MANE Select	NP_001990.2:p.Asp1485Asn
ENST00000262464.9:c.4453G>A MANE Select	ENSP00000262464.4:p.Asp1485Asn
NM_001999.3:c.4453G>A	NP_001990.2:p.Asp1485Asn
ENST00000262464.8:c.4453G>A	ENSP00000262464.4:p.Asp1485Asn
ENST00000507835.5:c.1003G>A	ENSP00000426839.1:p.Asp335Asn
ENST00000508053.5:c.4453G>A	ENSP00000424571.1:p.Asp1485Asn
ENST00000508989.5:c.4354G>A	ENSP00000425596.1:p.Asp1452Asn
ENST00000619499.4:c.4450G>A	ENSP00000482132.1:p.Asp1484Asn
ENST00000703783.1:n.1237G>A
ENST00000703785.1:n.1318G>A
ENST00000703786.1:n.1059G>A
XM_017009228.2:c.4300G>A	XP_016864717.1:p.Asp1434Asn