Canonical Allele Identifier: CA252157

Gene: MFN2

Linked Data

• ClinVar Variation Id: 2273
• ClinVar RCV Id: RCV000002361
• dbSNP Id: rs28940296
• MyVariant Identifiers: chr1:g.12052641G>T (hg19) ; chr1:g.11992584G>T (hg38)
• PubMed: PMID:15064763 ; PMID:15136675

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11992584G>T , CM000663.2:g.11992584G>T	GRCh38
NC_000001.10:g.12052641G>T , CM000663.1:g.12052641G>T	GRCh37
NC_000001.9:g.11975228G>T	NCBI36
NG_007945.1:g.17404G>T , LRG_255:g.17404G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235329.10:c.205G>T MANE Select	ENSP00000235329.5:p.Val69Phe
ENST00000412236.2:c.205G>T	ENSP00000412023.1:p.Val69Phe
ENST00000674548.1:c.205G>T	ENSP00000502185.1:p.Val69Phe
ENST00000674658.1:c.-34-3572G>T	ENSP00000502334.1:n.-34-3572G>T
ENST00000674706.1:n.644G>T
ENST00000674817.1:c.205G>T	ENSP00000502151.1:p.Val69Phe
ENST00000674910.1:c.205G>T	ENSP00000501716.1:p.Val69Phe
ENST00000675053.1:c.205G>T	ENSP00000501646.1:p.Val69Phe
ENST00000675113.1:c.205G>T	ENSP00000502623.1:p.Val69Phe
ENST00000675194.1:n.630G>T
ENST00000675231.1:c.205G>T	ENSP00000502404.1:p.Val69Phe
ENST00000675298.1:c.205G>T	ENSP00000501839.1:p.Val69Phe
ENST00000675483.1:n.333G>T
ENST00000675512.1:c.*207G>T	ENSP00000502630.1:n.*207G>T
ENST00000675530.1:c.205G>T	ENSP00000501972.1:p.Val69Phe
ENST00000675781.1:c.205G>T	ENSP00000501947.1:p.Val69Phe
ENST00000675817.1:c.205G>T	ENSP00000502422.1:p.Val69Phe
ENST00000675872.1:n.456G>T
ENST00000675919.1:c.205G>T	ENSP00000501776.1:p.Val69Phe
ENST00000675959.1:n.602G>T
ENST00000675987.1:c.205G>T	ENSP00000502145.1:p.Val69Phe
ENST00000676293.1:c.205G>T	ENSP00000502362.1:p.Val69Phe
ENST00000676369.1:c.205G>T	ENSP00000502005.1:p.Val69Phe
ENST00000676426.1:c.205G>T	ENSP00000502359.1:p.Val69Phe
ENST00000235329.9:c.205G>T	ENSP00000235329.5:p.Val69Phe
ENST00000412236.1:c.205G>T	ENSP00000412023.1:p.Val69Phe
ENST00000444836.5:c.205G>T	ENSP00000416338.1:p.Val69Phe
ENST00000497302.1:n.589G>T
NM_001127660.1:c.205G>T	NP_001121132.1:p.Val69Phe
NM_014874.3:c.205G>T , LRG_255t1:c.205G>T	NP_055689.1:p.Val69Phe
XM_005263543.2:c.205G>T	XP_005263600.1:p.Val69Phe
XM_005263545.2:c.205G>T	XP_005263602.1:p.Val69Phe
XM_005263547.2:c.205G>T	XP_005263604.1:p.Val69Phe
XM_005263548.2:c.205G>T	XP_005263605.1:p.Val69Phe
XM_005263543.3:c.205G>T	XP_005263600.1:p.Val69Phe
XM_005263545.3:c.205G>T	XP_005263602.1:p.Val69Phe
XM_005263547.3:c.205G>T	XP_005263604.1:p.Val69Phe
XM_005263548.3:c.205G>T	XP_005263605.1:p.Val69Phe
XM_024451299.1:c.205G>T	XP_024307067.1:p.Val69Phe
NM_014874.4:c.205G>T MANE Select	NP_055689.1:p.Val69Phe
NM_001127660.2:c.205G>T	NP_001121132.1:p.Val69Phe