Canonical Allele Identifier: CA2742488469
Gene: MFN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.12002253_12002254insACAG , CM000663.2:g.12002253_12002254insACAG GRCh38
NC_000001.10:g.12062310_12062311insACAG , CM000663.1:g.12062310_12062311insACAG GRCh37
NC_000001.9:g.11984897_11984898insACAG NCBI36
NG_007945.1:g.27073_27074insACAG , LRG_255:g.27073_27074insACAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000235329.10:c.1160+150_1160+151insACAG MANE Select ENSP00000235329.5:n.1160+150_1160+151insACAG
ENST00000674548.1:c.1160+150_1160+151insACAG ENSP00000502185.1:n.1160+150_1160+151insACAG
ENST00000674658.1:c.815+150_815+151insACAG ENSP00000502334.1:n.815+150_815+151insACAG
ENST00000674817.1:c.1160+150_1160+151insACAG ENSP00000502151.1:n.1160+150_1160+151insACAG
ENST00000674910.1:c.1160+150_1160+151insACAG ENSP00000501716.1:n.1160+150_1160+151insACAG
ENST00000675053.1:c.1160+150_1160+151insACAG ENSP00000501646.1:n.1160+150_1160+151insACAG
ENST00000675113.1:c.1160+150_1160+151insACAG ENSP00000502623.1:n.1160+150_1160+151insACAG
ENST00000675194.1:n.1735_1736insACAG
ENST00000675231.1:c.1160+150_1160+151insACAG ENSP00000502404.1:n.1160+150_1160+151insACAG
ENST00000675298.1:c.1160+150_1160+151insACAG ENSP00000501839.1:n.1160+150_1160+151insACAG
ENST00000675404.1:n.1395+150_1395+151insACAG
ENST00000675483.1:n.1288+150_1288+151insACAG
ENST00000675512.1:c.*1162+150_*1162+151insACAG ENSP00000502630.1:n.*1162+150_*1162+151insACAG
ENST00000675528.1:n.651+150_651+151insACAG
ENST00000675817.1:c.1160+150_1160+151insACAG ENSP00000502422.1:n.1160+150_1160+151insACAG
ENST00000675872.1:n.1520+150_1520+151insACAG
ENST00000675919.1:c.1160+150_1160+151insACAG ENSP00000501776.1:n.1160+150_1160+151insACAG
ENST00000675959.1:n.1666+150_1666+151insACAG
ENST00000675987.1:c.1160+150_1160+151insACAG ENSP00000502145.1:n.1160+150_1160+151insACAG
ENST00000676293.1:c.1160+150_1160+151insACAG ENSP00000502362.1:n.1160+150_1160+151insACAG
ENST00000676426.1:c.*160+150_*160+151insACAG ENSP00000502359.1:n.*160+150_*160+151insACAG
ENST00000235329.9:c.1160+150_1160+151insACAG ENSP00000235329.5:n.1160+150_1160+151insACAG
ENST00000444836.5:c.1160+150_1160+151insACAG ENSP00000416338.1:n.1160+150_1160+151insACAG
NM_001127660.1:c.1160+150_1160+151insACAG NP_001121132.1:n.1160+150_1160+151insACAG
NM_014874.3:c.1160+150_1160+151insACAG , LRG_255t1:c.1160+150_1160+151insACAG NP_055689.1:n.1160+150_1160+151insACAG
XM_005263543.2:c.1160+150_1160+151insACAG XP_005263600.1:n.1160+150_1160+151insACAG
XM_005263545.2:c.1160+150_1160+151insACAG XP_005263602.1:n.1160+150_1160+151insACAG
XM_005263547.2:c.1160+150_1160+151insACAG XP_005263604.1:n.1160+150_1160+151insACAG
XM_005263548.2:c.1160+150_1160+151insACAG XP_005263605.1:n.1160+150_1160+151insACAG
XM_005263543.3:c.1160+150_1160+151insACAG XP_005263600.1:n.1160+150_1160+151insACAG
XM_005263545.3:c.1160+150_1160+151insACAG XP_005263602.1:n.1160+150_1160+151insACAG
XM_005263547.3:c.1160+150_1160+151insACAG XP_005263604.1:n.1160+150_1160+151insACAG
XM_005263548.3:c.1160+150_1160+151insACAG XP_005263605.1:n.1160+150_1160+151insACAG
XM_024451299.1:c.1160+150_1160+151insACAG XP_024307067.1:n.1160+150_1160+151insACAG
NM_014874.4:c.1160+150_1160+151insACAG MANE Select NP_055689.1:n.1160+150_1160+151insACAG
NM_001127660.2:c.1160+150_1160+151insACAG NP_001121132.1:n.1160+150_1160+151insACAG