Canonical Allele Identifier: CA351529113

Gene: FBLN2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.13571436A>T , CM000665.2:g.13571436A>T	GRCh38
NC_000003.11:g.13612936A>T , CM000665.1:g.13612936A>T	GRCh37
NC_000003.10:g.13587937A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404922.8:c.1081A>T MANE Select	ENSP00000384169.3:p.Ser361Cys
ENST00000295760.11:c.1081A>T	ENSP00000295760.7:p.Ser361Cys
ENST00000404922.7:c.1081A>T	ENSP00000384169.3:p.Ser361Cys
ENST00000492059.5:c.1081A>T	ENSP00000420042.1:p.Ser361Cys
NM_001004019.1:c.1081A>T	NP_001004019.1:p.Ser361Cys
NM_001165035.1:c.1081A>T	NP_001158507.1:p.Ser361Cys
NM_001998.2:c.1081A>T	NP_001989.2:p.Ser361Cys
XM_006713026.2:c.1081A>T	XP_006713089.1:p.Ser361Cys
NM_001004019.2:c.1081A>T MANE Select	NP_001004019.1:p.Ser361Cys
NM_001165035.2:c.1081A>T	NP_001158507.1:p.Ser361Cys
NM_001998.3:c.1081A>T	NP_001989.2:p.Ser361Cys