Canonical Allele Identifier: CA521455941

Gene: MFN2

Linked Data

• dbSNP Id: rs1316087066
• gnomAD v2: 1-12061845-CT-C
• gnomAD v4: 1-12001788-CT-C
• MyVariant Identifiers: chr1:g.12061846del (hg19) ; chr1:g.12001789del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12001791del , CM000663.2:g.12001791del	GRCh38
NC_000001.10:g.12061848del , CM000663.1:g.12061848del	GRCh37
NC_000001.9:g.11984435del	NCBI36
NG_007945.1:g.26611del , LRG_255:g.26611del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235329.10:c.993del MANE Select	ENSP00000235329.5:p.Gln332LysfsTer2
ENST00000674548.1:c.993del	ENSP00000502185.1:p.Gln332LysfsTer2
ENST00000674658.1:c.648del	ENSP00000502334.1:p.Gln217LysfsTer2
ENST00000674817.1:c.993del	ENSP00000502151.1:p.Gln332LysfsTer2
ENST00000674910.1:c.993del	ENSP00000501716.1:p.Gln332LysfsTer2
ENST00000675053.1:c.993del	ENSP00000501646.1:p.Gln332LysfsTer2
ENST00000675113.1:c.993del	ENSP00000502623.1:p.Gln332LysfsTer2
ENST00000675194.1:n.1418del
ENST00000675231.1:c.993del	ENSP00000502404.1:p.Gln332LysfsTer2
ENST00000675298.1:c.993del	ENSP00000501839.1:p.Gln332LysfsTer2
ENST00000675404.1:n.1228del
ENST00000675483.1:n.1121del
ENST00000675512.1:c.*995del	ENSP00000502630.1:n.*995del
ENST00000675528.1:n.484del
ENST00000675817.1:c.993del	ENSP00000502422.1:p.Gln332LysfsTer2
ENST00000675872.1:n.1353del
ENST00000675919.1:c.993del	ENSP00000501776.1:p.Gln332LysfsTer2
ENST00000675959.1:n.1499del
ENST00000675987.1:c.993del	ENSP00000502145.1:p.Gln332LysfsTer2
ENST00000676293.1:c.993del	ENSP00000502362.1:p.Gln332LysfsTer2
ENST00000676426.1:c.761del	ENSP00000502359.1:p.Phe254SerfsTer6
ENST00000235329.9:c.993del	ENSP00000235329.5:p.Gln332LysfsTer2
ENST00000444836.5:c.993del	ENSP00000416338.1:p.Gln332LysfsTer2
NM_001127660.1:c.993del	NP_001121132.1:p.Gln332LysfsTer2
NM_014874.3:c.993del , LRG_255t1:c.993del	NP_055689.1:p.Gln332LysfsTer2
XM_005263543.2:c.993del	XP_005263600.1:p.Gln332LysfsTer2
XM_005263545.2:c.993del	XP_005263602.1:p.Gln332LysfsTer2
XM_005263547.2:c.993del	XP_005263604.1:p.Gln332LysfsTer2
XM_005263548.2:c.993del	XP_005263605.1:p.Gln332LysfsTer2
XM_005263543.3:c.993del	XP_005263600.1:p.Gln332LysfsTer2
XM_005263545.3:c.993del	XP_005263602.1:p.Gln332LysfsTer2
XM_005263547.3:c.993del	XP_005263604.1:p.Gln332LysfsTer2
XM_005263548.3:c.993del	XP_005263605.1:p.Gln332LysfsTer2
XM_024451299.1:c.993del	XP_024307067.1:p.Gln332LysfsTer2
NM_014874.4:c.993del MANE Select	NP_055689.1:p.Gln332LysfsTer2
NM_001127660.2:c.993del	NP_001121132.1:p.Gln332LysfsTer2