Canonical Allele Identifier: CA2573130604

Gene: MFN2

Linked Data

• ClinVar Variation Id: 1370251
• ClinVar RCV Id: RCV001899289
• dbSNP Id: rs2100858892

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12007253A>G , CM000663.2:g.12007253A>G	GRCh38
NC_000001.10:g.12067310A>G , CM000663.1:g.12067310A>G	GRCh37
NC_000001.9:g.11989897A>G	NCBI36
NG_007945.1:g.32073A>G , LRG_255:g.32073A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235329.10:c.2069+4A>G MANE Select	ENSP00000235329.5:n.2069+4A>G
ENST00000674548.1:c.2069+4A>G	ENSP00000502185.1:n.2069+4A>G
ENST00000674658.1:c.1724+4A>G	ENSP00000502334.1:n.1724+4A>G
ENST00000674817.1:c.2069+4A>G	ENSP00000502151.1:n.2069+4A>G
ENST00000674910.1:c.2069+4A>G	ENSP00000501716.1:n.2069+4A>G
ENST00000675053.1:c.2069+4A>G	ENSP00000501646.1:n.2069+4A>G
ENST00000675113.1:c.2069+4A>G	ENSP00000502623.1:n.2069+4A>G
ENST00000675231.1:c.2069+4A>G	ENSP00000502404.1:n.2069+4A>G
ENST00000675298.1:c.2069+4A>G	ENSP00000501839.1:n.2069+4A>G
ENST00000675404.1:n.2304+4A>G
ENST00000675483.1:n.2197+4A>G
ENST00000675512.1:c.*2071+4A>G	ENSP00000502630.1:n.*2071+4A>G
ENST00000675528.1:n.1560+4A>G
ENST00000675817.1:c.2201+4A>G	ENSP00000502422.1:n.2201+4A>G
ENST00000675872.1:n.2429+4A>G
ENST00000675919.1:c.2069+4A>G	ENSP00000501776.1:n.2069+4A>G
ENST00000675959.1:n.2575+4A>G
ENST00000675987.1:c.2073A>G	ENSP00000502145.1:p.Ter691Trp
ENST00000676293.1:c.2069+4A>G	ENSP00000502362.1:n.2069+4A>G
ENST00000676295.1:n.482+4A>G
ENST00000676426.1:c.*1069+4A>G	ENSP00000502359.1:n.*1069+4A>G
ENST00000235329.9:c.2069+4A>G	ENSP00000235329.5:n.2069+4A>G
ENST00000444836.5:c.2069+4A>G	ENSP00000416338.1:n.2069+4A>G
NM_001127660.1:c.2069+4A>G	NP_001121132.1:n.2069+4A>G
NM_014874.3:c.2069+4A>G , LRG_255t1:c.2069+4A>G	NP_055689.1:n.2069+4A>G
XM_005263543.2:c.2069+4A>G	XP_005263600.1:n.2069+4A>G
XM_005263545.2:c.2069+4A>G	XP_005263602.1:n.2069+4A>G
XM_005263547.2:c.2069+4A>G	XP_005263604.1:n.2069+4A>G
XM_005263548.2:c.2069+4A>G	XP_005263605.1:n.2069+4A>G
XM_005263543.3:c.2069+4A>G	XP_005263600.1:n.2069+4A>G
XM_005263545.3:c.2069+4A>G	XP_005263602.1:n.2069+4A>G
XM_005263547.3:c.2069+4A>G	XP_005263604.1:n.2069+4A>G
XM_005263548.3:c.2069+4A>G	XP_005263605.1:n.2069+4A>G
XM_024451299.1:c.2069+4A>G	XP_024307067.1:n.2069+4A>G
NM_014874.4:c.2069+4A>G MANE Select	NP_055689.1:n.2069+4A>G
NM_001127660.2:c.2069+4A>G	NP_001121132.1:n.2069+4A>G