Canonical Allele Identifier: CA3394248

Gene: FBN2

Linked Data

• ClinVar Variation Id: 458777
• ClinVar RCV Id: RCV000560785 ; RCV003330755 ; RCV003224319 ; RCV001712491
• dbSNP Id: rs749376421
• ExAC: 5:127622404 G / A
• gnomAD v2: 5-127622404-G-A
• gnomAD v3: 5-128286712-G-A
• gnomAD v4: 5-128286712-G-A
• MyVariant Identifiers: chr5:g.127622404G>A (hg19) ; chr5:g.128286712G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128286712G>A , CM000667.2:g.128286712G>A	GRCh38
NC_000005.9:g.127622404G>A , CM000667.1:g.127622404G>A	GRCh37
NC_000005.8:g.127650303G>A	NCBI36
NG_008750.1:g.256332C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.3796+6C>T
ENST00000262464.9:c.7012+6C>T MANE Select	ENSP00000262464.4:n.7012+6C>T
ENST00000262464.8:c.7012+6C>T	ENSP00000262464.4:n.7012+6C>T
ENST00000508053.5:c.7012+6C>T	ENSP00000424571.1:n.7012+6C>T
ENST00000619499.4:c.7009+6C>T	ENSP00000482132.1:n.7009+6C>T
NM_001999.3:c.7012+6C>T	NP_001990.2:n.7012+6C>T
XM_017009228.2:c.6859+6C>T	XP_016864717.1:n.6859+6C>T
NM_001999.4:c.7012+6C>T MANE Select	NP_001990.2:n.7012+6C>T