Canonical Allele Identifier: CA3395254

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128339056C>T , CM000667.2:g.128339056C>T	GRCh38
NC_000005.9:g.127674748C>T , CM000667.1:g.127674748C>T	GRCh37
NC_000005.8:g.127702647C>T	NCBI36
NG_008750.1:g.203988G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.3349G>A MANE Select	NP_001990.2:p.Asp1117Asn
ENST00000262464.9:c.3349G>A MANE Select	ENSP00000262464.4:p.Asp1117Asn
NM_001999.3:c.3349G>A	NP_001990.2:p.Asp1117Asn
ENST00000262464.8:c.3349G>A	ENSP00000262464.4:p.Asp1117Asn
ENST00000507835.5:c.-102G>A	ENSP00000426839.1:n.-102G>A
ENST00000508053.5:c.3349G>A	ENSP00000424571.1:p.Asp1117Asn
ENST00000508989.5:c.3250G>A	ENSP00000425596.1:p.Asp1084Asn
ENST00000619499.4:c.3346G>A	ENSP00000482132.1:p.Asp1116Asn
ENST00000703783.1:n.133G>A
ENST00000703785.1:n.214G>A
XM_017009228.2:c.3196G>A	XP_016864717.1:p.Asp1066Asn