Canonical Allele Identifier: CA360760096

Gene: FBN2

Linked Data

• gnomAD v4: 5-128339060-G-T
• MyVariant Identifiers: chr5:g.127674752G>T (hg19) ; chr5:g.128339060G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128339060G>T , CM000667.2:g.128339060G>T	GRCh38
NC_000005.9:g.127674752G>T , CM000667.1:g.127674752G>T	GRCh37
NC_000005.8:g.127702651G>T	NCBI36
NG_008750.1:g.203984C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.129C>A
ENST00000703785.1:n.210C>A
ENST00000262464.9:c.3345C>A MANE Select	ENSP00000262464.4:p.Asp1115Glu
ENST00000262464.8:c.3345C>A	ENSP00000262464.4:p.Asp1115Glu
ENST00000507835.5:c.-106C>A	ENSP00000426839.1:n.-106C>A
ENST00000508053.5:c.3345C>A	ENSP00000424571.1:p.Asp1115Glu
ENST00000508989.5:c.3246C>A	ENSP00000425596.1:p.Asp1082Glu
ENST00000619499.4:c.3342C>A	ENSP00000482132.1:p.Asp1114Glu
NM_001999.3:c.3345C>A	NP_001990.2:p.Asp1115Glu
XM_017009228.2:c.3192C>A	XP_016864717.1:p.Asp1064Glu
NM_001999.4:c.3345C>A MANE Select	NP_001990.2:p.Asp1115Glu