Canonical Allele Identifier: CA351533705

Gene: FBLN2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.13637835C>A , CM000665.2:g.13637835C>A	GRCh38
NC_000003.11:g.13679335C>A , CM000665.1:g.13679335C>A	GRCh37
NC_000003.10:g.13654336C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404922.8:c.3612C>A MANE Select	ENSP00000384169.3:p.Asp1204Glu
ENST00000295760.11:c.3471C>A	ENSP00000295760.7:p.Asp1157Glu
ENST00000295761.11:c.254-262C>A
ENST00000404922.7:c.3612C>A	ENSP00000384169.3:p.Asp1204Glu
ENST00000421373.1:c.135+263C>A
ENST00000492059.5:c.3612C>A	ENSP00000420042.1:p.Asp1204Glu
NM_001004019.1:c.3612C>A	NP_001004019.1:p.Asp1204Glu
NM_001165035.1:c.3612C>A	NP_001158507.1:p.Asp1204Glu
NM_001998.2:c.3471C>A	NP_001989.2:p.Asp1157Glu
XM_006713026.2:c.3495C>A	XP_006713089.1:p.Asp1165Glu
NM_001004019.2:c.3612C>A MANE Select	NP_001004019.1:p.Asp1204Glu
NM_001165035.2:c.3612C>A	NP_001158507.1:p.Asp1204Glu
NM_001998.3:c.3471C>A	NP_001989.2:p.Asp1157Glu