Canonical Allele Identifier: CA348245884

Gene: FBLN7

Linked Data

• ClinVar Variation Id: 2316347
• ClinVar RCV Id: RCV004161314
• gnomAD v4: 2-112181781-G-T
• MyVariant Identifiers: chr2:g.112939358G>T (hg19) ; chr2:g.112181781G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112181781G>T , CM000664.2:g.112181781G>T	GRCh38
NC_000002.11:g.112939358G>T , CM000664.1:g.112939358G>T	GRCh37
NC_000002.10:g.112655829G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331203.7:c.575G>T MANE Select	ENSP00000331411.2:p.Arg192Leu
ENST00000331203.6:c.575G>T	ENSP00000331411.2:p.Arg192Leu
ENST00000409450.7:c.533-1010G>T	ENSP00000387000.3:n.533-1010G>T
ENST00000409667.7:c.407-3420G>T	ENSP00000386822.3:n.407-3420G>T
ENST00000409903.5:c.575G>T	ENSP00000386295.1:p.Arg192Leu
ENST00000441565.5:c.257G>T	ENSP00000388025.1:p.Arg86Leu
NM_001128165.1:c.533-1010G>T	NP_001121637.1:n.533-1010G>T
NM_153214.2:c.575G>T	NP_694946.2:p.Arg192Leu
XM_006712260.2:c.575G>T	XP_006712323.1:p.Arg192Leu
XM_011510585.1:c.575G>T	XP_011508887.1:p.Arg192Leu
XM_011510586.1:c.575G>T	XP_011508888.1:p.Arg192Leu
XM_011510587.1:c.404G>T	XP_011508889.1:p.Arg135Leu
XM_006712260.3:c.575G>T	XP_006712323.1:p.Arg192Leu
XM_011510585.2:c.575G>T	XP_011508887.1:p.Arg192Leu
XM_011510587.2:c.404G>T	XP_011508889.1:p.Arg135Leu
XM_017003317.1:c.575G>T	XP_016858806.1:p.Arg192Leu
XM_017003319.1:c.575G>T	XP_016858808.1:p.Arg192Leu
XM_024452686.1:c.404G>T	XP_024308454.1:p.Arg135Leu
XR_001738613.1:n.846G>T
XR_001738614.2:n.846G>T
XR_001738615.1:n.846G>T
XR_001738616.1:n.846G>T
XR_001738617.1:n.846G>T
XR_001738618.2:n.846G>T
NM_153214.3:c.575G>T MANE Select	NP_694946.2:p.Arg192Leu
NM_001128165.2:c.533-1010G>T	NP_001121637.1:n.533-1010G>T