Canonical Allele Identifier: CA886267548

Gene: MFN2

Linked Data

• dbSNP Id: rs1283761126
• MyVariant Identifiers: chr1:g.12044281_12044282del (hg19) ; chr1:g.11984224_11984225del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11984224_11984225del , CM000663.2:g.11984224_11984225del	GRCh38
NC_000001.10:g.12044281_12044282del , CM000663.1:g.12044281_12044282del	GRCh37
NC_000001.9:g.11966868_11966869del	NCBI36
NG_007945.1:g.9044_9045del , LRG_255:g.9044_9045del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235329.10:c.-5+2110_-5+2111del MANE Select	ENSP00000235329.5:n.-5+2110_-5+2111del
ENST00000412236.2:c.-5+1634_-5+1635del	ENSP00000412023.1:n.-5+1634_-5+1635del
ENST00000674548.1:c.-95+3740_-95+3741del	ENSP00000502185.1:n.-95+3740_-95+3741del
ENST00000674658.1:c.-35+1634_-35+1635del	ENSP00000502334.1:n.-35+1634_-35+1635del
ENST00000674706.1:n.435+1634_435+1635del
ENST00000674817.1:c.-5+3740_-5+3741del	ENSP00000502151.1:n.-5+3740_-5+3741del
ENST00000674910.1:c.-127+3740_-127+3741del	ENSP00000501716.1:n.-127+3740_-127+3741del
ENST00000675053.1:c.-5+2110_-5+2111del	ENSP00000501646.1:n.-5+2110_-5+2111del
ENST00000675113.1:c.-67+2110_-67+2111del	ENSP00000502623.1:n.-67+2110_-67+2111del
ENST00000675194.1:n.421+2110_421+2111del
ENST00000675231.1:c.-5+1634_-5+1635del	ENSP00000502404.1:n.-5+1634_-5+1635del
ENST00000675298.1:c.-5+2110_-5+2111del	ENSP00000501839.1:n.-5+2110_-5+2111del
ENST00000675512.1:c.-5+2110_-5+2111del	ENSP00000502630.1:n.-5+2110_-5+2111del
ENST00000675530.1:c.-5+2110_-5+2111del	ENSP00000501972.1:n.-5+2110_-5+2111del
ENST00000675781.1:c.-5+2110_-5+2111del	ENSP00000501947.1:n.-5+2110_-5+2111del
ENST00000675817.1:c.-5+2110_-5+2111del	ENSP00000502422.1:n.-5+2110_-5+2111del
ENST00000675872.1:n.247+3740_247+3741del
ENST00000675919.1:c.-95+2110_-95+2111del	ENSP00000501776.1:n.-95+2110_-95+2111del
ENST00000675959.1:n.393+2110_393+2111del
ENST00000675987.1:c.-5+2110_-5+2111del	ENSP00000502145.1:n.-5+2110_-5+2111del
ENST00000676293.1:c.-127+2110_-127+2111del	ENSP00000502362.1:n.-127+2110_-127+2111del
ENST00000676369.1:c.-5+1634_-5+1635del	ENSP00000502005.1:n.-5+1634_-5+1635del
ENST00000676426.1:c.-5+2110_-5+2111del	ENSP00000502359.1:n.-5+2110_-5+2111del
ENST00000235329.9:c.-5+2110_-5+2111del	ENSP00000235329.5:n.-5+2110_-5+2111del
ENST00000412236.1:c.-5+1634_-5+1635del	ENSP00000412023.1:n.-5+1634_-5+1635del
ENST00000444836.5:c.-5+3740_-5+3741del	ENSP00000416338.1:n.-5+3740_-5+3741del
ENST00000484391.5:n.115+3740_115+3741del
ENST00000490079.5:n.375+2110_375+2111del
ENST00000497302.1:n.195+2110_195+2111del
NM_001127660.1:c.-5+3740_-5+3741del	NP_001121132.1:n.-5+3740_-5+3741del
NM_014874.3:c.-5+2110_-5+2111del , LRG_255t1:c.-5+2110_-5+2111del	NP_055689.1:n.-5+2110_-5+2111del
XM_005263543.2:c.-5+1634_-5+1635del	XP_005263600.1:n.-5+1634_-5+1635del
XM_005263545.2:c.-5+2110_-5+2111del	XP_005263602.1:n.-5+2110_-5+2111del
XM_005263547.2:c.-5+2110_-5+2111del	XP_005263604.1:n.-5+2110_-5+2111del
XM_005263548.2:c.-5+1634_-5+1635del	XP_005263605.1:n.-5+1634_-5+1635del
XM_005263543.3:c.-5+1634_-5+1635del	XP_005263600.1:n.-5+1634_-5+1635del
XM_005263545.3:c.-5+2110_-5+2111del	XP_005263602.1:n.-5+2110_-5+2111del
XM_005263547.3:c.-5+2110_-5+2111del	XP_005263604.1:n.-5+2110_-5+2111del
XM_005263548.3:c.-5+1634_-5+1635del	XP_005263605.1:n.-5+1634_-5+1635del
XM_024451299.1:c.-5+1634_-5+1635del	XP_024307067.1:n.-5+1634_-5+1635del
NM_014874.4:c.-5+2110_-5+2111del MANE Select	NP_055689.1:n.-5+2110_-5+2111del
NM_001127660.2:c.-5+3740_-5+3741del	NP_001121132.1:n.-5+3740_-5+3741del