Canonical Allele Identifier: CA599331

Gene: MFN2

Linked Data

• ClinVar Variation Id: 1598768
• ClinVar RCV Id: RCV002122778
• dbSNP Id: rs759614417
• ExAC: 1:12069638 C / G
• gnomAD v2: 1-12069638-C-G
• gnomAD v3: 1-12009581-C-G
• gnomAD v4: 1-12009581-C-G
• MyVariant Identifiers: chr1:g.12069638C>G (hg19) ; chr1:g.12009581C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12009581C>G , CM000663.2:g.12009581C>G	GRCh38
NC_000001.10:g.12069638C>G , CM000663.1:g.12069638C>G	GRCh37
NC_000001.9:g.11992225C>G	NCBI36
NG_007945.1:g.34401C>G , LRG_255:g.34401C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000235329.10:c.2070-11C>G MANE Select	ENSP00000235329.5:n.2070-11C>G
ENST00000674548.1:c.2070-11C>G	ENSP00000502185.1:n.2070-11C>G
ENST00000674658.1:c.1725-11C>G	ENSP00000502334.1:n.1725-11C>G
ENST00000674817.1:c.2070-11C>G	ENSP00000502151.1:n.2070-11C>G
ENST00000674910.1:c.2070-11C>G	ENSP00000501716.1:n.2070-11C>G
ENST00000675043.1:n.27C>G
ENST00000675053.1:c.2070-11C>G	ENSP00000501646.1:n.2070-11C>G
ENST00000675113.1:c.2070-11C>G	ENSP00000502623.1:n.2070-11C>G
ENST00000675231.1:c.2070-11C>G	ENSP00000502404.1:n.2070-11C>G
ENST00000675298.1:c.2070-11C>G	ENSP00000501839.1:n.2070-11C>G
ENST00000675404.1:n.2305-11C>G
ENST00000675483.1:n.2198-11C>G
ENST00000675512.1:c.*2072-11C>G	ENSP00000502630.1:n.*2072-11C>G
ENST00000675528.1:n.1561-11C>G
ENST00000675817.1:c.2202-11C>G	ENSP00000502422.1:n.2202-11C>G
ENST00000675872.1:n.2430-11C>G
ENST00000675919.1:c.2070-11C>G	ENSP00000501776.1:n.2070-11C>G
ENST00000675959.1:n.2576-11C>G
ENST00000675987.1:c.*43-11C>G	ENSP00000502145.1:n.*43-11C>G
ENST00000676293.1:c.2070-11C>G	ENSP00000502362.1:n.2070-11C>G
ENST00000676295.1:n.483-11C>G
ENST00000676426.1:c.*1070-11C>G	ENSP00000502359.1:n.*1070-11C>G
ENST00000235329.9:c.2070-11C>G	ENSP00000235329.5:n.2070-11C>G
ENST00000444836.5:c.2070-11C>G	ENSP00000416338.1:n.2070-11C>G
NM_001127660.1:c.2070-11C>G	NP_001121132.1:n.2070-11C>G
NM_014874.3:c.2070-11C>G , LRG_255t1:c.2070-11C>G	NP_055689.1:n.2070-11C>G
XM_005263543.2:c.2070-11C>G	XP_005263600.1:n.2070-11C>G
XM_005263545.2:c.2070-11C>G	XP_005263602.1:n.2070-11C>G
XM_005263547.2:c.2070-11C>G	XP_005263604.1:n.2070-11C>G
XM_005263548.2:c.2070-11C>G	XP_005263605.1:n.2070-11C>G
XM_005263543.3:c.2070-11C>G	XP_005263600.1:n.2070-11C>G
XM_005263545.3:c.2070-11C>G	XP_005263602.1:n.2070-11C>G
XM_005263547.3:c.2070-11C>G	XP_005263604.1:n.2070-11C>G
XM_005263548.3:c.2070-11C>G	XP_005263605.1:n.2070-11C>G
XM_024451299.1:c.2070-11C>G	XP_024307067.1:n.2070-11C>G
NM_014874.4:c.2070-11C>G MANE Select	NP_055689.1:n.2070-11C>G
NM_001127660.2:c.2070-11C>G	NP_001121132.1:n.2070-11C>G