Canonical Allele Identifier: CA599346

Gene: MFN2

Linked Data

• ClinVar Variation Id: 378135
• ClinVar RCV Id: RCV000658495 ; RCV001080381 ; RCV001096345 ; RCV001172998 ; RCV002429357
• dbSNP Id: rs148441213
• ExAC: 1:12069736 G / A
• gnomAD v2: 1-12069736-G-A
• gnomAD v3: 1-12009679-G-A
• gnomAD v4: 1-12009679-G-A
• MyVariant Identifiers: chr1:g.12069736G>A (hg19) ; chr1:g.12009679G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12009679G>A , CM000663.2:g.12009679G>A	GRCh38
NC_000001.10:g.12069736G>A , CM000663.1:g.12069736G>A	GRCh37
NC_000001.9:g.11992323G>A	NCBI36
NG_007945.1:g.34499G>A , LRG_255:g.34499G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235329.10:c.2157G>A MANE Select	ENSP00000235329.5:p.Lys719=
ENST00000674548.1:c.2157G>A	ENSP00000502185.1:p.Lys719=
ENST00000674658.1:c.1812G>A	ENSP00000502334.1:p.Lys604=
ENST00000674817.1:c.2157G>A	ENSP00000502151.1:p.Lys719=
ENST00000674910.1:c.2157G>A	ENSP00000501716.1:p.Lys719=
ENST00000675043.1:n.125G>A
ENST00000675053.1:c.2157G>A	ENSP00000501646.1:p.Lys719=
ENST00000675113.1:c.2157G>A	ENSP00000502623.1:p.Lys719=
ENST00000675231.1:c.2157G>A	ENSP00000502404.1:p.Lys719=
ENST00000675298.1:c.2157G>A	ENSP00000501839.1:p.Lys719=
ENST00000675404.1:n.2392G>A
ENST00000675483.1:n.2285G>A
ENST00000675512.1:c.*2159G>A	ENSP00000502630.1:n.*2159G>A
ENST00000675528.1:n.1648G>A
ENST00000675817.1:c.2289G>A	ENSP00000502422.1:p.Lys763=
ENST00000675872.1:n.2517G>A
ENST00000675919.1:c.2157G>A	ENSP00000501776.1:p.Lys719=
ENST00000675959.1:n.2663G>A
ENST00000675987.1:c.*130G>A	ENSP00000502145.1:n.*130G>A
ENST00000676293.1:c.2157G>A	ENSP00000502362.1:p.Lys719=
ENST00000676295.1:n.570G>A
ENST00000676426.1:c.*1157G>A	ENSP00000502359.1:n.*1157G>A
ENST00000235329.9:c.2157G>A	ENSP00000235329.5:p.Lys719=
ENST00000444836.5:c.2157G>A	ENSP00000416338.1:p.Lys719=
NM_001127660.1:c.2157G>A	NP_001121132.1:p.Lys719=
NM_014874.3:c.2157G>A , LRG_255t1:c.2157G>A	NP_055689.1:p.Lys719=
XM_005263543.2:c.2157G>A	XP_005263600.1:p.Lys719=
XM_005263545.2:c.2157G>A	XP_005263602.1:p.Lys719=
XM_005263547.2:c.2157G>A	XP_005263604.1:p.Lys719=
XM_005263548.2:c.2157G>A	XP_005263605.1:p.Lys719=
XM_005263543.3:c.2157G>A	XP_005263600.1:p.Lys719=
XM_005263545.3:c.2157G>A	XP_005263602.1:p.Lys719=
XM_005263547.3:c.2157G>A	XP_005263604.1:p.Lys719=
XM_005263548.3:c.2157G>A	XP_005263605.1:p.Lys719=
XM_024451299.1:c.2157G>A	XP_024307067.1:p.Lys719=
NM_014874.4:c.2157G>A MANE Select	NP_055689.1:p.Lys719=
NM_001127660.2:c.2157G>A	NP_001121132.1:p.Lys719=