Canonical Allele Identifier: CA360754566

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332912C>T , CM000667.2:g.128332912C>T	GRCh38
NC_000005.9:g.127668604C>T , CM000667.1:g.127668604C>T	GRCh37
NC_000005.8:g.127696503C>T	NCBI36
NG_008750.1:g.210132G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.4222G>A MANE Select	NP_001990.2:p.Asp1408Asn
ENST00000262464.9:c.4222G>A MANE Select	ENSP00000262464.4:p.Asp1408Asn
NM_001999.3:c.4222G>A	NP_001990.2:p.Asp1408Asn
ENST00000262464.8:c.4222G>A	ENSP00000262464.4:p.Asp1408Asn
ENST00000507835.5:c.772G>A	ENSP00000426839.1:p.Asp258Asn
ENST00000508053.5:c.4222G>A	ENSP00000424571.1:p.Asp1408Asn
ENST00000508989.5:c.4123G>A	ENSP00000425596.1:p.Asp1375Asn
ENST00000619499.4:c.4219G>A	ENSP00000482132.1:p.Asp1407Asn
ENST00000703783.1:n.1006G>A
ENST00000703785.1:n.1087G>A
XM_017009228.2:c.4069G>A	XP_016864717.1:p.Asp1357Asn