Canonical Allele Identifier: CA324510

Gene: FBN2

Linked Data

• ClinVar Variation Id: 213402
• ClinVar RCV Id: RCV000472155 ; RCV000513271 ; RCV002315591 ; RCV002277534
• dbSNP Id: rs200481467
• ExAC: 5:127671155 G / A
• gnomAD v2: 5-127671155-G-A
• gnomAD v3: 5-128335463-G-A
• gnomAD v4: 5-128335463-G-A
• COSMIC: COSM281078 ; COSM281079
• MyVariant Identifiers: chr5:g.127671155G>A (hg19) ; chr5:g.128335463G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335463G>A , CM000667.2:g.128335463G>A	GRCh38
NC_000005.9:g.127671155G>A , CM000667.1:g.127671155G>A	GRCh37
NC_000005.8:g.127699054G>A	NCBI36
NG_008750.1:g.207581C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.623C>T
ENST00000703785.1:n.704C>T
ENST00000262464.9:c.3839C>T MANE Select	ENSP00000262464.4:p.Ser1280Leu
ENST00000262464.8:c.3839C>T	ENSP00000262464.4:p.Ser1280Leu
ENST00000507835.5:c.389C>T	ENSP00000426839.1:p.Ser130Leu
ENST00000508053.5:c.3839C>T	ENSP00000424571.1:p.Ser1280Leu
ENST00000508989.5:c.3740C>T	ENSP00000425596.1:p.Ser1247Leu
ENST00000619499.4:c.3836C>T	ENSP00000482132.1:p.Ser1279Leu
NM_001999.3:c.3839C>T	NP_001990.2:p.Ser1280Leu
XM_017009228.2:c.3686C>T	XP_016864717.1:p.Ser1229Leu
NM_001999.4:c.3839C>T MANE Select	NP_001990.2:p.Ser1280Leu