Canonical Allele Identifier: CA2742489494
Gene: MFN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.12009860_12009861insACAT , CM000663.2:g.12009860_12009861insACAT GRCh38
NC_000001.10:g.12069917_12069918insACAT , CM000663.1:g.12069917_12069918insACAT GRCh37
NC_000001.9:g.11992504_11992505insACAT NCBI36
NG_007945.1:g.34680_34681insACAT , LRG_255:g.34680_34681insACAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000235329.10:c.2204+134_2204+135insACAT MANE Select ENSP00000235329.5:n.2204+134_2204+135insACAT
ENST00000674548.1:c.2204+134_2204+135insACAT ENSP00000502185.1:n.2204+134_2204+135insACAT
ENST00000674658.1:c.1859+134_1859+135insACAT ENSP00000502334.1:n.1859+134_1859+135insACAT
ENST00000674817.1:c.2204+134_2204+135insACAT ENSP00000502151.1:n.2204+134_2204+135insACAT
ENST00000674910.1:c.2204+134_2204+135insACAT ENSP00000501716.1:n.2204+134_2204+135insACAT
ENST00000675043.1:n.172+134_172+135insACAT
ENST00000675053.1:c.2204+134_2204+135insACAT ENSP00000501646.1:n.2204+134_2204+135insACAT
ENST00000675113.1:c.2204+134_2204+135insACAT ENSP00000502623.1:n.2204+134_2204+135insACAT
ENST00000675231.1:c.2204+134_2204+135insACAT ENSP00000502404.1:n.2204+134_2204+135insACAT
ENST00000675298.1:c.2204+134_2204+135insACAT ENSP00000501839.1:n.2204+134_2204+135insACAT
ENST00000675404.1:n.2439+134_2439+135insACAT
ENST00000675483.1:n.2332+134_2332+135insACAT
ENST00000675512.1:c.*2206+134_*2206+135insACAT ENSP00000502630.1:n.*2206+134_*2206+135insACAT
ENST00000675528.1:n.1695+134_1695+135insACAT
ENST00000675817.1:c.2336+134_2336+135insACAT ENSP00000502422.1:n.2336+134_2336+135insACAT
ENST00000675872.1:n.2564+134_2564+135insACAT
ENST00000675919.1:c.2204+134_2204+135insACAT ENSP00000501776.1:n.2204+134_2204+135insACAT
ENST00000675959.1:n.2710+134_2710+135insACAT
ENST00000675987.1:c.*177+134_*177+135insACAT ENSP00000502145.1:n.*177+134_*177+135insACAT
ENST00000676293.1:c.2204+134_2204+135insACAT ENSP00000502362.1:n.2204+134_2204+135insACAT
ENST00000676295.1:n.617+134_617+135insACAT
ENST00000676426.1:c.*1204+134_*1204+135insACAT ENSP00000502359.1:n.*1204+134_*1204+135insACAT
ENST00000235329.9:c.2204+134_2204+135insACAT ENSP00000235329.5:n.2204+134_2204+135insACAT
ENST00000444836.5:c.2204+134_2204+135insACAT ENSP00000416338.1:n.2204+134_2204+135insACAT
NM_001127660.1:c.2204+134_2204+135insACAT NP_001121132.1:n.2204+134_2204+135insACAT
NM_014874.3:c.2204+134_2204+135insACAT , LRG_255t1:c.2204+134_2204+135insACAT NP_055689.1:n.2204+134_2204+135insACAT
XM_005263543.2:c.2204+134_2204+135insACAT XP_005263600.1:n.2204+134_2204+135insACAT
XM_005263545.2:c.2204+134_2204+135insACAT XP_005263602.1:n.2204+134_2204+135insACAT
XM_005263547.2:c.2204+134_2204+135insACAT XP_005263604.1:n.2204+134_2204+135insACAT
XM_005263548.2:c.2204+134_2204+135insACAT XP_005263605.1:n.2204+134_2204+135insACAT
XM_005263543.3:c.2204+134_2204+135insACAT XP_005263600.1:n.2204+134_2204+135insACAT
XM_005263545.3:c.2204+134_2204+135insACAT XP_005263602.1:n.2204+134_2204+135insACAT
XM_005263547.3:c.2204+134_2204+135insACAT XP_005263604.1:n.2204+134_2204+135insACAT
XM_005263548.3:c.2204+134_2204+135insACAT XP_005263605.1:n.2204+134_2204+135insACAT
XM_024451299.1:c.2204+134_2204+135insACAT XP_024307067.1:n.2204+134_2204+135insACAT
NM_014874.4:c.2204+134_2204+135insACAT MANE Select NP_055689.1:n.2204+134_2204+135insACAT
NM_001127660.2:c.2204+134_2204+135insACAT NP_001121132.1:n.2204+134_2204+135insACAT