Canonical Allele Identifier: CA3394508

Gene: FBN2

Linked Data

• ClinVar Variation Id: 528445
• ClinVar RCV Id: RCV000633644 ; RCV001579435 ; RCV002358775 ; RCV003953118
• dbSNP Id: rs752114619
• ExAC: 5:127636618 C / T
• gnomAD v2: 5-127636618-C-T
• gnomAD v3: 5-128300926-C-T
• gnomAD v4: 5-128300926-C-T
• MyVariant Identifiers: chr5:g.127636618C>T (hg19) ; chr5:g.128300926C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128300926C>T , CM000667.2:g.128300926C>T	GRCh38
NC_000005.9:g.127636618C>T , CM000667.1:g.127636618C>T	GRCh37
NC_000005.8:g.127664517C>T	NCBI36
NG_008750.1:g.242118G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2841G>A
ENST00000703785.1:n.2760G>A
ENST00000262464.9:c.6057G>A MANE Select	ENSP00000262464.4:p.Glu2019=
ENST00000262464.8:c.6057G>A	ENSP00000262464.4:p.Glu2019=
ENST00000508053.5:c.6057G>A	ENSP00000424571.1:p.Glu2019=
ENST00000619499.4:c.6054G>A	ENSP00000482132.1:p.Glu2018=
NM_001999.3:c.6057G>A	NP_001990.2:p.Glu2019=
XM_017009228.2:c.5904G>A	XP_016864717.1:p.Glu1968=
NM_001999.4:c.6057G>A MANE Select	NP_001990.2:p.Glu2019=