Canonical Allele Identifier: CA290860

Gene: FBN2

Linked Data

• ClinVar Variation Id: 137318
• ClinVar RCV Id: RCV000125035 ; RCV000356256 ; RCV000659599 ; RCV001705910
• dbSNP Id: rs199937209
• ExAC: 5:127712555 G / A
• gnomAD v2: 5-127712555-G-A
• gnomAD v3: 5-128376862-G-A
• gnomAD v4: 5-128376862-G-A
• MyVariant Identifiers: chr5:g.127712555G>A (hg19) ; chr5:g.128376862G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128376862G>A , CM000667.2:g.128376862G>A	GRCh38
NC_000005.9:g.127712555G>A , CM000667.1:g.127712555G>A	GRCh37
NC_000005.8:g.127740454G>A	NCBI36
NG_008750.1:g.166181C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.1850-9C>T MANE Select	ENSP00000262464.4:n.1850-9C>T
ENST00000262464.8:c.1850-9C>T	ENSP00000262464.4:n.1850-9C>T
ENST00000508053.5:c.1850-9C>T	ENSP00000424571.1:n.1850-9C>T
ENST00000508989.5:c.1751-9C>T	ENSP00000425596.1:n.1751-9C>T
ENST00000511489.1:n.71-9C>T
ENST00000619499.4:c.1847-9C>T	ENSP00000482132.1:n.1847-9C>T
NM_001999.3:c.1850-9C>T	NP_001990.2:n.1850-9C>T
XM_017009228.2:c.1697-9C>T	XP_016864717.1:n.1697-9C>T
NM_001999.4:c.1850-9C>T MANE Select	NP_001990.2:n.1850-9C>T