Canonical Allele Identifier: CA3394927

Gene: FBN2

Linked Data

• ClinVar Variation Id: 377868
• ClinVar RCV Id: RCV000444280 ; RCV001152835
• dbSNP Id: rs528062851
• ExAC: 5:127654704 T / A
• gnomAD v2: 5-127654704-T-A
• gnomAD v3: 5-128319012-T-A
• gnomAD v4: 5-128319012-T-A
• COSMIC: COSN18183440 ; COSN25992913
• MyVariant Identifiers: chr5:g.127654704T>A (hg19) ; chr5:g.127654704_127654705delinsAA (hg19) ; chr5:g.128319012T>A (hg38) ; chr5:g.128319012_128319013delinsAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128319012T>A , CM000667.2:g.128319012T>A	GRCh38
NC_000005.9:g.127654704T>A , CM000667.1:g.127654704T>A	GRCh37
NC_000005.8:g.127682603T>A	NCBI36
NG_008750.1:g.224032A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1256-11A>T
ENST00000703785.1:n.1337-11A>T
ENST00000262464.9:c.4472-11A>T MANE Select	ENSP00000262464.4:n.4472-11A>T
ENST00000262464.8:c.4472-11A>T	ENSP00000262464.4:n.4472-11A>T
ENST00000508053.5:c.4472-11A>T	ENSP00000424571.1:n.4472-11A>T
ENST00000619499.4:c.4469-11A>T	ENSP00000482132.1:n.4469-11A>T
NM_001999.3:c.4472-11A>T	NP_001990.2:n.4472-11A>T
XM_017009228.2:c.4319-11A>T	XP_016864717.1:n.4319-11A>T
NM_001999.4:c.4472-11A>T MANE Select	NP_001990.2:n.4472-11A>T