Canonical Allele Identifier: CA521204709

Gene: MFN2

Linked Data

• dbSNP Id: rs1638762043
• gnomAD v2: 1-12053125-A-ATTCGTAAGACATTAAACAAAGCTAG
• MyVariant Identifiers: chr1:g.12053126_12053129delinsTTCGTAAGACATTAAACAAAGCTAGCCAG (hg19) ; chr1:g.11993069_11993072delinsTTCGTAAGACATTAAACAAAGCTAGCCAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11993068_11993069insTTCGTAAGACATTAAACAAAGCTAG , CM000663.2:g.11993068_11993069insTTCGTAAGACATTAAACAAAGCTAG	GRCh38
NC_000001.10:g.12053125_12053126insTTCGTAAGACATTAAACAAAGCTAG , CM000663.1:g.12053125_12053126insTTCGTAAGACATTAAACAAAGCTAG	GRCh37
NC_000001.9:g.11975712_11975713insTTCGTAAGACATTAAACAAAGCTAG	NCBI36
NG_007945.1:g.17888_17889insTTCGTAAGACATTAAACAAAGCTAG , LRG_255:g.17888_17889insTTCGTAAGACATTAAACAAAGCTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235329.10:c.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG MANE Select	ENSP00000235329.5:n.311+378_311+379insTTCGTAAGACATTAAACAAAGCT...
ENST00000674548.1:c.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG	ENSP00000502185.1:n.311+378_311+379insTTCGTAAGACATTAAACAAAGCT...
ENST00000674658.1:c.-34-3088_-34-3087insTTCGTAAGACATTAAACAAAGCTAG	ENSP00000502334.1:n.-34-3088_-34-3087insTTCGTAAGACATTAAACAAAG...
ENST00000674706.1:n.750+378_750+379insTTCGTAAGACATTAAACAAAGCTAG
ENST00000674817.1:c.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG	ENSP00000502151.1:n.311+378_311+379insTTCGTAAGACATTAAACAAAGCT...
ENST00000674910.1:c.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG	ENSP00000501716.1:n.311+378_311+379insTTCGTAAGACATTAAACAAAGCT...
ENST00000675053.1:c.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG	ENSP00000501646.1:n.311+378_311+379insTTCGTAAGACATTAAACAAAGCT...
ENST00000675113.1:c.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG	ENSP00000502623.1:n.311+378_311+379insTTCGTAAGACATTAAACAAAGCT...
ENST00000675194.1:n.736+378_736+379insTTCGTAAGACATTAAACAAAGCTAG
ENST00000675231.1:c.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG	ENSP00000502404.1:n.311+378_311+379insTTCGTAAGACATTAAACAAAGCT...
ENST00000675298.1:c.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG	ENSP00000501839.1:n.311+378_311+379insTTCGTAAGACATTAAACAAAGCT...
ENST00000675483.1:n.439+378_439+379insTTCGTAAGACATTAAACAAAGCTAG
ENST00000675512.1:c.*313+378_*313+379insTTCGTAAGACATTAAACAAAGCTAG	ENSP00000502630.1:n.*313+378_*313+379insTTCGTAAGACATTAAACAAAG...
ENST00000675817.1:c.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG	ENSP00000502422.1:n.311+378_311+379insTTCGTAAGACATTAAACAAAGCT...
ENST00000675872.1:n.562+378_562+379insTTCGTAAGACATTAAACAAAGCTAG
ENST00000675919.1:c.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG	ENSP00000501776.1:n.311+378_311+379insTTCGTAAGACATTAAACAAAGCT...
ENST00000675959.1:n.708+378_708+379insTTCGTAAGACATTAAACAAAGCTAG
ENST00000675987.1:c.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG	ENSP00000502145.1:n.311+378_311+379insTTCGTAAGACATTAAACAAAGCT...
ENST00000676293.1:c.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG	ENSP00000502362.1:n.311+378_311+379insTTCGTAAGACATTAAACAAAGCT...
ENST00000676426.1:c.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG	ENSP00000502359.1:n.311+378_311+379insTTCGTAAGACATTAAACAAAGCT...
ENST00000235329.9:c.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG	ENSP00000235329.5:n.311+378_311+379insTTCGTAAGACATTAAACAAAGCT...
ENST00000444836.5:c.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG	ENSP00000416338.1:n.311+378_311+379insTTCGTAAGACATTAAACAAAGCT...
NM_001127660.1:c.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG	NP_001121132.1:n.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG
NM_014874.3:c.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG , LRG_255t1:c.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG	NP_055689.1:n.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG
XM_005263543.2:c.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG	XP_005263600.1:n.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG
XM_005263545.2:c.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG	XP_005263602.1:n.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG
XM_005263547.2:c.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG	XP_005263604.1:n.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG
XM_005263548.2:c.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG	XP_005263605.1:n.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG
XM_005263543.3:c.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG	XP_005263600.1:n.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG
XM_005263545.3:c.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG	XP_005263602.1:n.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG
XM_005263547.3:c.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG	XP_005263604.1:n.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG
XM_005263548.3:c.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG	XP_005263605.1:n.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG
XM_024451299.1:c.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG	XP_024307067.1:n.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG
NM_014874.4:c.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG MANE Select	NP_055689.1:n.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG
NM_001127660.2:c.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG	NP_001121132.1:n.311+378_311+379insTTCGTAAGACATTAAACAAAGCTAG