Canonical Allele Identifier: CA18009187

Gene: MFN2

Linked Data

• ClinVar Variation Id: 1103642
• ClinVar RCV Id: RCV001427400 ; RCV001751762
• dbSNP Id: rs767693664
• gnomAD v2: 1-12058872-G-A
• gnomAD v4: 1-11998815-G-A
• MyVariant Identifiers: chr1:g.12058872G>A (hg19) ; chr1:g.11998815G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11998815G>A , CM000663.2:g.11998815G>A	GRCh38
NC_000001.10:g.12058872G>A , CM000663.1:g.12058872G>A	GRCh37
NC_000001.9:g.11981459G>A	NCBI36
NG_007945.1:g.23635G>A , LRG_255:g.23635G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235329.10:c.645G>A MANE Select	ENSP00000235329.5:p.Lys215=
ENST00000674548.1:c.645G>A	ENSP00000502185.1:p.Lys215=
ENST00000674658.1:c.300G>A	ENSP00000502334.1:p.Lys100=
ENST00000674706.1:n.1084G>A
ENST00000674817.1:c.645G>A	ENSP00000502151.1:p.Lys215=
ENST00000674910.1:c.645G>A	ENSP00000501716.1:p.Lys215=
ENST00000675053.1:c.645G>A	ENSP00000501646.1:p.Lys215=
ENST00000675113.1:c.645G>A	ENSP00000502623.1:p.Lys215=
ENST00000675194.1:n.1070G>A
ENST00000675231.1:c.645G>A	ENSP00000502404.1:p.Lys215=
ENST00000675298.1:c.645G>A	ENSP00000501839.1:p.Lys215=
ENST00000675374.1:n.335G>A
ENST00000675483.1:n.773G>A
ENST00000675512.1:c.*647G>A	ENSP00000502630.1:n.*647G>A
ENST00000675528.1:n.136G>A
ENST00000675817.1:c.645G>A	ENSP00000502422.1:p.Lys215=
ENST00000675872.1:n.896G>A
ENST00000675919.1:c.645G>A	ENSP00000501776.1:p.Lys215=
ENST00000675959.1:n.1042G>A
ENST00000675987.1:c.645G>A	ENSP00000502145.1:p.Lys215=
ENST00000676293.1:c.645G>A	ENSP00000502362.1:p.Lys215=
ENST00000676426.1:c.599+1394G>A	ENSP00000502359.1:n.599+1394G>A
ENST00000235329.9:c.645G>A	ENSP00000235329.5:p.Lys215=
ENST00000444836.5:c.645G>A	ENSP00000416338.1:p.Lys215=
NM_001127660.1:c.645G>A	NP_001121132.1:p.Lys215=
NM_014874.3:c.645G>A , LRG_255t1:c.645G>A	NP_055689.1:p.Lys215=
XM_005263543.2:c.645G>A	XP_005263600.1:p.Lys215=
XM_005263545.2:c.645G>A	XP_005263602.1:p.Lys215=
XM_005263547.2:c.645G>A	XP_005263604.1:p.Lys215=
XM_005263548.2:c.645G>A	XP_005263605.1:p.Lys215=
XM_005263543.3:c.645G>A	XP_005263600.1:p.Lys215=
XM_005263545.3:c.645G>A	XP_005263602.1:p.Lys215=
XM_005263547.3:c.645G>A	XP_005263604.1:p.Lys215=
XM_005263548.3:c.645G>A	XP_005263605.1:p.Lys215=
XM_024451299.1:c.645G>A	XP_024307067.1:p.Lys215=
NM_014874.4:c.645G>A MANE Select	NP_055689.1:p.Lys215=
NM_001127660.2:c.645G>A	NP_001121132.1:p.Lys215=