Canonical Allele Identifier: CA367852084
Gene: MAGI2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.78168036C>G , CM000669.2:g.78168036C>G GRCh38
NC_000007.13:g.77797353C>G , CM000669.1:g.77797353C>G GRCh37
NC_000007.12:g.77635289C>G NCBI36
NG_011487.1:g.1290538G>C
NG_011487.2:g.1290539G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000354212.9:c.2476G>C MANE Select ENSP00000346151.4:p.Val826Leu
ENST00000636178.1:c.1546G>C ENSP00000489709.1:p.Val516Leu
ENST00000637282.1:c.1255G>C ENSP00000490637.1:p.Val419Leu
ENST00000637441.1:c.2434G>C ENSP00000489633.1:p.Val812Leu
ENST00000637486.1:c.*578G>C ENSP00000490080.1:n.*578G>C
ENST00000354212.8:c.2476G>C ENSP00000346151.4:p.Val826Leu
ENST00000419488.5:c.2434G>C ENSP00000405766.1:p.Val812Leu
ENST00000519748.5:c.1255G>C ENSP00000486774.1:p.Val419Leu
ENST00000522342.3:c.130G>C ENSP00000486379.1:p.Val44Leu
ENST00000522391.3:c.2476G>C ENSP00000428389.1:p.Val826Leu
ENST00000535697.5:c.2020G>C ENSP00000441603.3:p.Val674Leu
ENST00000626691.2:c.1987G>C ENSP00000486131.1:p.Val663Leu
ENST00000628361.1:c.391G>C ENSP00000486154.1:p.Val131Leu
ENST00000628980.2:c.2062G>C ENSP00000487526.1:p.Val688Leu
ENST00000629359.2:c.1945G>C ENSP00000487448.1:p.Val649Leu
NM_001301128.1:c.2434G>C NP_001288057.1:p.Val812Leu
NM_012301.3:c.2476G>C NP_036433.2:p.Val826Leu
XM_011516718.1:c.2476G>C XP_011515020.1:p.Val826Leu
XM_011516719.1:c.2116G>C XP_011515021.1:p.Val706Leu
XM_011516720.1:c.2116G>C XP_011515022.1:p.Val706Leu
XM_011516721.1:c.1945G>C XP_011515023.1:p.Val649Leu
XM_011516722.1:c.1936G>C XP_011515024.1:p.Val646Leu
XM_011516723.1:c.2476G>C XP_011515025.1:p.Val826Leu
XM_011516724.1:c.2476G>C XP_011515026.1:p.Val826Leu
XM_011516725.1:c.2476G>C XP_011515027.1:p.Val826Leu
XM_011516726.1:c.1432G>C XP_011515028.1:p.Val478Leu
XM_011516727.1:c.1432G>C XP_011515029.1:p.Val478Leu
XM_011516728.1:c.1303G>C XP_011515030.1:p.Val435Leu
XM_011516729.1:c.1255G>C XP_011515031.1:p.Val419Leu
XM_011516718.2:c.2476G>C XP_011515020.1:p.Val826Leu
XM_011516719.3:c.2116G>C XP_011515021.1:p.Val706Leu
XM_011516720.3:c.2116G>C XP_011515022.1:p.Val706Leu
XM_011516726.3:c.1432G>C XP_011515028.1:p.Val478Leu
XM_017012840.2:c.2605G>C XP_016868329.1:p.Val869Leu
XM_017012841.2:c.2602G>C XP_016868330.1:p.Val868Leu
XM_017012842.2:c.2599G>C XP_016868331.1:p.Val867Leu
XM_017012843.2:c.2563G>C XP_016868332.1:p.Val855Leu
XM_017012844.2:c.2605G>C XP_016868333.1:p.Val869Leu
XM_017012845.2:c.2470G>C XP_016868334.1:p.Val824Leu
XM_017012846.2:c.2434G>C XP_016868335.1:p.Val812Leu
XM_017012847.2:c.2116G>C XP_016868336.1:p.Val706Leu
XM_017012848.2:c.1987G>C XP_016868337.1:p.Val663Leu
XM_017012849.2:c.1981G>C XP_016868338.1:p.Val661Leu
XM_017012850.2:c.2605G>C XP_016868339.1:p.Val869Leu
XM_017012851.2:c.2605G>C XP_016868340.1:p.Val869Leu
XM_017012852.2:c.2605G>C XP_016868341.1:p.Val869Leu
XM_024447009.1:c.2116G>C XP_024302777.1:p.Val706Leu
NM_012301.4:c.2476G>C MANE Select NP_036433.2:p.Val826Leu
NM_001301128.2:c.2434G>C NP_001288057.1:p.Val812Leu