Canonical Allele Identifier: CA598789

Gene: MFN2

Linked Data

• ClinVar Variation Id: 637751
• ClinVar RCV Id: RCV000790048
• dbSNP Id: rs777012596
• ExAC: 1:12052735 C / CT
• gnomAD v2: 1-12052735-C-CT
• gnomAD v4: 1-11992678-C-CT
• MyVariant Identifiers: chr1:g.12052735_12052736insT (hg19) ; chr1:g.11992678_11992679insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11992685dup , CM000663.2:g.11992685dup	GRCh38
NC_000001.10:g.12052742dup , CM000663.1:g.12052742dup	GRCh37
NC_000001.9:g.11975329dup	NCBI36
NG_007945.1:g.17505dup , LRG_255:g.17505dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000235329.10:c.306dup MANE Select	ENSP00000235329.5:p.Gly103TrpfsTer?
ENST00000674548.1:c.306dup	ENSP00000502185.1:p.Gly103TrpfsTer?
ENST00000674658.1:c.-34-3471dup	ENSP00000502334.1:n.-34-3471dup
ENST00000674706.1:n.745dup
ENST00000674817.1:c.306dup	ENSP00000502151.1:p.Gly103TrpfsTer?
ENST00000674910.1:c.306dup	ENSP00000501716.1:p.Gly103TrpfsTer?
ENST00000675053.1:c.306dup	ENSP00000501646.1:p.Gly103TrpfsTer?
ENST00000675113.1:c.306dup	ENSP00000502623.1:p.Gly103TrpfsTer?
ENST00000675194.1:n.731dup
ENST00000675231.1:c.306dup	ENSP00000502404.1:p.Gly103TrpfsTer?
ENST00000675298.1:c.306dup	ENSP00000501839.1:p.Gly103TrpfsTer?
ENST00000675483.1:n.434dup
ENST00000675512.1:c.*308dup	ENSP00000502630.1:n.*308dup
ENST00000675817.1:c.306dup	ENSP00000502422.1:p.Gly103TrpfsTer?
ENST00000675872.1:n.557dup
ENST00000675919.1:c.306dup	ENSP00000501776.1:p.Gly103TrpfsTer?
ENST00000675959.1:n.703dup
ENST00000675987.1:c.306dup	ENSP00000502145.1:p.Gly103TrpfsTer?
ENST00000676293.1:c.306dup	ENSP00000502362.1:p.Gly103TrpfsTer?
ENST00000676426.1:c.306dup	ENSP00000502359.1:p.Gly103TrpfsTer?
ENST00000235329.9:c.306dup	ENSP00000235329.5:p.Gly103TrpfsTer?
ENST00000444836.5:c.306dup	ENSP00000416338.1:p.Gly103TrpfsTer?
NM_001127660.1:c.306dup	NP_001121132.1:p.Gly103TrpfsTer?
NM_014874.3:c.306dup , LRG_255t1:c.306dup	NP_055689.1:p.Gly103TrpfsTer?
XM_005263543.2:c.306dup	XP_005263600.1:p.Gly103TrpfsTer?
XM_005263545.2:c.306dup	XP_005263602.1:p.Gly103TrpfsTer?
XM_005263547.2:c.306dup	XP_005263604.1:p.Gly103TrpfsTer?
XM_005263548.2:c.306dup	XP_005263605.1:p.Gly103TrpfsTer?
XM_005263543.3:c.306dup	XP_005263600.1:p.Gly103TrpfsTer?
XM_005263545.3:c.306dup	XP_005263602.1:p.Gly103TrpfsTer?
XM_005263547.3:c.306dup	XP_005263604.1:p.Gly103TrpfsTer?
XM_005263548.3:c.306dup	XP_005263605.1:p.Gly103TrpfsTer?
XM_024451299.1:c.306dup	XP_024307067.1:p.Gly103TrpfsTer?
NM_014874.4:c.306dup MANE Select	NP_055689.1:p.Gly103TrpfsTer?
NM_001127660.2:c.306dup	NP_001121132.1:p.Gly103TrpfsTer?