Canonical Allele Identifier: CA338446791

Gene: MFN2

Linked Data

• ClinVar Variation Id: 2084071
• ClinVar RCV Id: RCV002994519 ; RCV003269382
• gnomAD v4: 1-12004880-C-T
• MyVariant Identifiers: chr1:g.12064937C>T (hg19) ; chr1:g.12004880C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12004880C>T , CM000663.2:g.12004880C>T	GRCh38
NC_000001.10:g.12064937C>T , CM000663.1:g.12064937C>T	GRCh37
NC_000001.9:g.11987524C>T	NCBI36
NG_007945.1:g.29700C>T , LRG_255:g.29700C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235329.10:c.1448C>T MANE Select	ENSP00000235329.5:p.Ser483Phe
ENST00000674548.1:c.1448C>T	ENSP00000502185.1:p.Ser483Phe
ENST00000674658.1:c.1103C>T	ENSP00000502334.1:p.Ser368Phe
ENST00000674817.1:c.1448C>T	ENSP00000502151.1:p.Ser483Phe
ENST00000674910.1:c.1448C>T	ENSP00000501716.1:p.Ser483Phe
ENST00000675053.1:c.1448C>T	ENSP00000501646.1:p.Ser483Phe
ENST00000675113.1:c.1448C>T	ENSP00000502623.1:p.Ser483Phe
ENST00000675231.1:c.1448C>T	ENSP00000502404.1:p.Ser483Phe
ENST00000675298.1:c.1448C>T	ENSP00000501839.1:p.Ser483Phe
ENST00000675404.1:n.1683C>T
ENST00000675483.1:n.1576C>T
ENST00000675512.1:c.*1450C>T	ENSP00000502630.1:n.*1450C>T
ENST00000675528.1:n.939C>T
ENST00000675817.1:c.1580C>T	ENSP00000502422.1:p.Ser527Phe
ENST00000675872.1:n.1808C>T
ENST00000675919.1:c.1448C>T	ENSP00000501776.1:p.Ser483Phe
ENST00000675959.1:n.1954C>T
ENST00000675987.1:c.1448C>T	ENSP00000502145.1:p.Ser483Phe
ENST00000676293.1:c.1448C>T	ENSP00000502362.1:p.Ser483Phe
ENST00000676426.1:c.*448C>T	ENSP00000502359.1:n.*448C>T
ENST00000235329.9:c.1448C>T	ENSP00000235329.5:p.Ser483Phe
ENST00000444836.5:c.1448C>T	ENSP00000416338.1:p.Ser483Phe
NM_001127660.1:c.1448C>T	NP_001121132.1:p.Ser483Phe
NM_014874.3:c.1448C>T , LRG_255t1:c.1448C>T	NP_055689.1:p.Ser483Phe
XM_005263543.2:c.1448C>T	XP_005263600.1:p.Ser483Phe
XM_005263545.2:c.1448C>T	XP_005263602.1:p.Ser483Phe
XM_005263547.2:c.1448C>T	XP_005263604.1:p.Ser483Phe
XM_005263548.2:c.1448C>T	XP_005263605.1:p.Ser483Phe
XM_005263543.3:c.1448C>T	XP_005263600.1:p.Ser483Phe
XM_005263545.3:c.1448C>T	XP_005263602.1:p.Ser483Phe
XM_005263547.3:c.1448C>T	XP_005263604.1:p.Ser483Phe
XM_005263548.3:c.1448C>T	XP_005263605.1:p.Ser483Phe
XM_024451299.1:c.1448C>T	XP_024307067.1:p.Ser483Phe
NM_014874.4:c.1448C>T MANE Select	NP_055689.1:p.Ser483Phe
NM_001127660.2:c.1448C>T	NP_001121132.1:p.Ser483Phe