Canonical Allele Identifier: CA446310143

Gene: FBN2

Linked Data

• gnomAD v4: 5-128335507-T-C
• MyVariant Identifiers: chr5:g.127671199T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335507T>C , CM000667.2:g.128335507T>C	GRCh38
NC_000005.9:g.127671199T>C , CM000667.1:g.127671199T>C	GRCh37
NC_000005.8:g.127699098T>C	NCBI36
NG_008750.1:g.207537A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.579A>G
ENST00000703785.1:n.660A>G
ENST00000262464.9:c.3795A>G MANE Select	ENSP00000262464.4:p.Glu1265=
ENST00000262464.8:c.3795A>G	ENSP00000262464.4:p.Glu1265=
ENST00000507835.5:c.345A>G	ENSP00000426839.1:p.Glu115=
ENST00000508053.5:c.3795A>G	ENSP00000424571.1:p.Glu1265=
ENST00000508989.5:c.3696A>G	ENSP00000425596.1:p.Glu1232=
ENST00000619499.4:c.3792A>G	ENSP00000482132.1:p.Glu1264=
NM_001999.3:c.3795A>G	NP_001990.2:p.Glu1265=
XM_017009228.2:c.3642A>G	XP_016864717.1:p.Glu1214=
NM_001999.4:c.3795A>G MANE Select	NP_001990.2:p.Glu1265=