Canonical Allele Identifier: CA3394180

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128278778C>T , CM000667.2:g.128278778C>T	GRCh38
NC_000005.9:g.127614470C>T , CM000667.1:g.127614470C>T	GRCh37
NC_000005.8:g.127642369C>T	NCBI36
NG_008750.1:g.264266G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.7202G>A MANE Select	NP_001990.2:p.Ser2401Asn
ENST00000262464.9:c.7202G>A MANE Select	ENSP00000262464.4:p.Ser2401Asn
NM_001999.3:c.7202G>A	NP_001990.2:p.Ser2401Asn
ENST00000262464.8:c.7202G>A	ENSP00000262464.4:p.Ser2401Asn
ENST00000508053.5:c.7202G>A	ENSP00000424571.1:p.Ser2401Asn
ENST00000619499.4:c.7199G>A	ENSP00000482132.1:p.Ser2400Asn
ENST00000703783.1:n.3986G>A
XM_017009228.2:c.7049G>A	XP_016864717.1:p.Ser2350Asn