Canonical Allele Identifier: CA3395919

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128408784C>T , CM000667.2:g.128408784C>T	GRCh38
NC_000005.9:g.127744477C>T , CM000667.1:g.127744477C>T	GRCh37
NC_000005.8:g.127772376C>T	NCBI36
NG_008750.1:g.134259G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.968G>A MANE Select	NP_001990.2:p.Ser323Asn
ENST00000262464.9:c.968G>A MANE Select	ENSP00000262464.4:p.Ser323Asn
NM_001999.3:c.968G>A	NP_001990.2:p.Ser323Asn
ENST00000262464.8:c.968G>A	ENSP00000262464.4:p.Ser323Asn
ENST00000508053.5:c.968G>A	ENSP00000424571.1:p.Ser323Asn
ENST00000508053.6:c.968G>A	ENSP00000424571.2:p.Ser323Asn
ENST00000508989.5:c.869G>A	ENSP00000425596.1:p.Ser290Asn
ENST00000619499.4:c.965G>A	ENSP00000482132.1:p.Ser322Asn
ENST00000703787.1:n.675G>A
XM_017009228.2:c.968G>A	XP_016864717.1:p.Ser323Asn