Canonical Allele Identifier: CA3395489

Gene: FBN2

Linked Data

• ClinVar Variation Id: 528449
• ClinVar RCV Id: RCV000633650 ; RCV000839316
• dbSNP Id: rs143905167
• ExAC: 5:127693008 C / T
• gnomAD v2: 5-127693008-C-T
• gnomAD v3: 5-128357316-C-T
• gnomAD v4: 5-128357316-C-T
• MyVariant Identifiers: chr5:g.127693008C>T (hg19) ; chr5:g.128357316C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357316C>T , CM000667.2:g.128357316C>T	GRCh38
NC_000005.9:g.127693008C>T , CM000667.1:g.127693008C>T	GRCh37
NC_000005.8:g.127720907C>T	NCBI36
NG_008750.1:g.185728G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262464.9:c.2634G>A MANE Select	ENSP00000262464.4:p.Ser878=
ENST00000262464.8:c.2634G>A	ENSP00000262464.4:p.Ser878=
ENST00000508053.5:c.2634G>A	ENSP00000424571.1:p.Ser878=
ENST00000508989.5:c.2535G>A	ENSP00000425596.1:p.Ser845=
ENST00000619499.4:c.2631G>A	ENSP00000482132.1:p.Ser877=
NM_001999.3:c.2634G>A	NP_001990.2:p.Ser878=
XM_017009228.2:c.2481G>A	XP_016864717.1:p.Ser827=
NM_001999.4:c.2634G>A MANE Select	NP_001990.2:p.Ser878=